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[PMID]:29287889
[Au] Autor:Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
[Ad] Endereço:Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy.
[Ti] Título:A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
[So] Source:Int J Pediatr Otorhinolaryngol;104:88-93, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.
[Mh] Termos MeSH primário: Surdez/genética
Perda Auditiva Neurossensorial/genética
Fator de Transcrição PAX3/genética
Transativadores/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Adulto
Audiometria
Criança
Família
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EYA4 protein, human); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Trans-Activators)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


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[PMID]:29287879
[Au] Autor:Niu Z; Yan D; Bressler S; Mei L; Feng Y; Liu X
[Ad] Endereço:Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
[Ti] Título:A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.
[So] Source:Int J Pediatr Otorhinolaryngol;104:47-50, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. METHODS: Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. RESULTS: In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls. CONCLUSIONS: We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.
[Mh] Termos MeSH primário: Surdez/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Perda Auditiva Neurossensorial/genética
Proteínas Musculares/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Códon sem Sentido
Feminino
Mutação da Fase de Leitura
Genótipo
Seres Humanos
Masculino
Meia-Idade
Linhagem
Processamento de RNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (Muscle Proteins); 0 (SMPX protein, human)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


  3 / 21528 MEDLINE  
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[PMID]:29429175
[Au] Autor:Peng Z; Wang ZX; Xie J; Wang LE; Liu Y; Gong SS
[Ad] Endereço:Department of Otorhinolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijng 100050, China.
[Ti] Título:[Middle ear teratoma in infant: report of three cases and review of the literatures].
[So] Source:Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi;53(2):81-85, 2018 Feb 07.
[Is] ISSN:1673-0860
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To summarize the clinical characteristics and therapeutic experiences of the middle ear teratoma in infants. Three cases of middle ear teratoma, from 2012-2015 in Beijing Friendship Hospital were analyzed. The three cases all developed slowly and presented unilateral otorrhea and hearing loss. Otoscopy showed the granulation tissue in the external ear canal. Audiological changes varied according to the degree of severity. Imaging features showed the pocket-like occupancy lesions in the Eustachian tube area. The temporal bone CT showed mass with soft tissue density usually involved in the mastoid and tympanic cavity. MRI showed mixed signal intense on both T1 and T2 weighted imaging. All the three cases received neoplasm resection of the middle ear. Only one case received tympanoplasty surgery at the same time. And all the pathology results displayed mature teratoma. The follow-up time was 17 to 54 months. MRI showed complete removal of the tumor. Teratoma are rare in the head and neck neoplasm. When the infants suffer from the unilateral otorrhea, hearing loss, and granulation tissue formed in the external ear canal, it should be vigilant for teratoma. The differential diagnosis is middle ear cholesteatoma, congenital first branchial cyst or fistula, and middle ear carcinoma. Temporal bone CT combined with MRI could improve the accuracy of diagnosis. It should be totally resection as soon as possible if there is no contraindication. Postoperative follow-up and imaging examination are necessary to eliminate tumor recurrence.
[Mh] Termos MeSH primário: Neoplasias da Orelha/cirurgia
Orelha Média
Teratoma
[Mh] Termos MeSH secundário: Branquioma
Surdez/etiologia
Diagnóstico Diferencial
Neoplasias da Orelha/complicações
Neoplasias da Orelha/diagnóstico por imagem
Orelha Média/diagnóstico por imagem
Tuba Auditiva/diagnóstico por imagem
Neoplasias de Cabeça e Pescoço
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Processo Mastoide/diagnóstico por imagem
Recidiva Local de Neoplasia
Otoscopia
Osso Temporal/diagnóstico por imagem
Teratoma/complicações
Teratoma/diagnóstico por imagem
Teratoma/cirurgia
Tomografia Computadorizada por Raios X
Timpanoplastia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180213
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1673-0860.2018.02.001


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[PMID]:29496743
[Au] Autor:Flood B
[Ad] Endereço:Daughters of Charity Disability Support Service, Dublin, Republic of Ireland.
[Ti] Título:Improving the auditory environment for patients with intellectual disabilities and hearing loss.
[So] Source:BMJ;360:k895, 2018 03 01.
[Is] ISSN:1756-1833
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Perda Auditiva
Deficiência Intelectual
[Mh] Termos MeSH secundário: Surdez
Meio Ambiente
Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180303
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.k895


  5 / 21528 MEDLINE  
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[PMID]:27770622
[Au] Autor:Mitchell TV
[Ad] Endereço:Eunice Kennedy Shriver Center, University of Massachusetts Medical School, Worcester, MA, USA; Brandeis University, Waltham, MA, USA. Electronic address: teresa.mitchell@umassmed.edu.
[Ti] Título:Category selectivity of the N170 and the role of expertise in deaf signers.
[So] Source:Hear Res;343:150-161, 2017 Jan.
[Is] ISSN:1878-5891
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Deafness is known to affect processing of visual motion and information in the visual periphery, as well as the neural substrates for these domains. This study was designed to characterize the effects of early deafness and lifelong sign language use on visual category sensitivity of the N170 event-related potential. Images from nine categories of visual forms including upright faces, inverted faces, and hands were presented to twelve typically hearing adults and twelve adult congenitally deaf signers. Classic N170 category sensitivity was observed in both participant groups, whereby faces elicited larger amplitudes than all other visual categories, and inverted faces elicited larger amplitudes and slower latencies than upright faces. In hearing adults, hands elicited a right hemispheric asymmetry while in deaf signers this category elicited a left hemispheric asymmetry. Pilot data from five hearing native signers suggests that this effect is due to lifelong use of American Sign Language rather than auditory deprivation itself.
[Mh] Termos MeSH primário: Surdez/reabilitação
Potenciais Evocados Visuais
Percepção de Movimento
Pessoas com Deficiência Auditiva/reabilitação
Linguagem de Sinais
Percepção Visual
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Surdez/fisiopatologia
Surdez/psicologia
Eletroencefalografia
Face
Feminino
Lateralidade Funcional
Mãos
Seres Humanos
Masculino
Pessoas com Deficiência Auditiva/psicologia
Estimulação Luminosa
Projetos Piloto
Tempo de Reação
Fatores de Tempo
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161023
[St] Status:MEDLINE


  6 / 21528 MEDLINE  
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[PMID]:29414276
[Au] Autor:Baltimore RS; Nimkin K; Sparger KA; Pierce VM; Plotkin SA
[Ad] Endereço:From the Departments of Pediatrics and Infection Prevention, Yale New Haven Children's Hospital, and the Departments of Pediatrics and Epidemiology, Yale School of Medicine and Yale School of Public Health, New Haven, CT (R.S.B.); the Departments of Radiology (K.N.), Pediatrics (K.A.S., V.M.P.), and
[Ti] Título:Case 4-2018: A Newborn with Thrombocytopenia, Cataracts, and Hepatosplenomegaly.
[So] Source:N Engl J Med;378(6):564-572, 2018 Feb 08.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Surdez/etiologia
Síndrome da Rubéola Congênita/diagnóstico
Trombocitopenia/etiologia
[Mh] Termos MeSH secundário: Abdome/diagnóstico por imagem
Encéfalo/diagnóstico por imagem
Catarata/etiologia
Diagnóstico Diferencial
Hepatomegalia/etiologia
Seres Humanos
Recém-Nascido
Masculino
Nigéria
Radiografia Torácica
Síndrome da Rubéola Congênita/complicações
Esplenomegalia/etiologia
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180208
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMcpc1706110


  7 / 21528 MEDLINE  
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[PMID]:29331482
[Au] Autor:Mittal R; Patel AP; Nguyen D; Pan DR; Jhaveri VM; Rudman JR; Dharmaraja A; Yan D; Feng Y; Chapagain P; Lee DJ; Blanton SH; Liu XZ
[Ad] Endereço:Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA.
[Ti] Título:Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
[So] Source:Gene;647:297-305, 2018 Mar 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Hearing loss (HL) is the most common neurosensory disorder affecting humans. The screening, prevention and treatment of HL require a better understanding of the underlying molecular mechanisms. Genetic predisposition is one of the most common factors that leads to HL. Most HL studies include few Spanish, Hispanic and Latino participants, leaving a critical gap in our understanding about the prevalence, impact, unmet health care needs, and genetic factors associated with hearing impairment among Spanish, Hispanic and Latino populations. The few studies which have been performed show that the gene variants commonly associated with HL in non-Spanish and non-Hispanic populations are infrequently responsible for hearing impairment in Spanish as well as Hispanic and Latino populations (hereafter referred to as Hispanic). To design effective screening tools to detect HL in Spanish and Hispanic populations, studies must be conducted to determine the gene variants that are most commonly associated with hearing impairment in this racial/ethnic group. In this review article, we summarize gene variants and loci associated with HL in Spanish and Hispanic populations. Identifying new genetic variants associated with HL in Spanish and Hispanic populations will pave the way to develop effective screening tools and therapeutic strategies for HL.
[Mh] Termos MeSH primário: Grupos Étnicos/genética
Predisposição Genética para Doença/genética
Perda Auditiva/genética
Hispano-Americanos/genética
[Mh] Termos MeSH secundário: Animais
Surdez/genética
Seres Humanos
Prevalência
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180115
[St] Status:MEDLINE


  8 / 21528 MEDLINE  
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[PMID]:29293560
[Au] Autor:Jaiyeola MT; Adeyemo AA
[Ad] Endereço:Institute of Child Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.
[Ti] Título:Quality of life of deaf and hard of hearing students in Ibadan metropolis, Nigeria.
[So] Source:PLoS One;13(1):e0190130, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Quality of Life encompasses an individual's well-being and health, social participation and satisfaction with functional daily living. Disabilities such as deafness can impact on the quality of life with spatial variance to the environment. Deafness causes communicative problems with significant consequences in cognitive, social, and emotional well-being of affected individuals. However, information relating to the quality of life of deaf and hard of hearing individuals, especially students in developing countries like Nigeria, which could be used to design special health-related interventions is sparse. This study examined the quality of life of deaf and hard of hearing students in Ibadan metropolis, Nigeria. One hundred and ten deaf and hard of hearing students participated in this cross-sectional study. Participants were drawn from all four secondary schools for the Deaf in Ibadan metropolis. The 26 item Brief version of the WHO Quality of Life questionnaire was used for data collection. The data was analyzed using descriptive and inferential statistics at statistical significance of p<0.05. Majority (57.8%) of the deaf and hard of hearing students had poor quality of life. Attending the special school for the Deaf, upper socio-economic status and age (≥17years) are significantly associated with better quality of life. However, gender and age at onset of hearing loss had no significant influence on the quality of life. The Deaf community available in the special school appeared to protect against stigma and discrimination, while also promoting social interactions between deaf and hard of hearing individuals.
[Mh] Termos MeSH primário: Surdez/fisiopatologia
Pessoas com Deficiência Auditiva/psicologia
Qualidade de Vida
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Estudos Transversais
Surdez/psicologia
Países em Desenvolvimento
Feminino
Seres Humanos
Masculino
Nigéria
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; VALIDATION STUDIES
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180206
[Lr] Data última revisão:
180206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180103
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190130


  9 / 21528 MEDLINE  
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[PMID]:27771538
[Au] Autor:Carrigan EM; Coppola M
[Ad] Endereço:University of Connecticut, United States. Electronic address: emily.carrigan@uconn.edu.
[Ti] Título:Successful communication does not drive language development: Evidence from adult homesign.
[So] Source:Cognition;158:10-27, 2017 01.
[Is] ISSN:1873-7838
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Constructivist accounts of language acquisition maintain that the language learner aims to match a target provided by mature users. Communicative problem solving in the context of social interaction and matching a linguistic target or model are presented as primary mechanisms driving the language development process. However, research on the development of homesign gesture systems by deaf individuals who have no access to a linguistic model suggests that aspects of language can develop even when typical input is unavailable. In four studies, we examined the role of communication in the genesis of homesign systems by assessing how well homesigners' family members comprehend homesign productions. In Study 1, homesigners' mothers showed poorer comprehension of homesign descriptions produced by their now-adult deaf child than of spoken Spanish descriptions of the same events produced by one of their adult hearing children. Study 2 found that the younger a family member was when they first interacted with their deaf relative, the better they understood the homesigner. Despite this, no family member comprehended homesign productions at levels that would be expected if family members co-generated homesign systems with their deaf relative via communicative interactions. Study 3 found that mothers' poor or incomplete comprehension of homesign was not a result of incomplete homesign descriptions. In Study 4 we demonstrated that Deaf native users of American Sign Language, who had no previous experience with the homesigners or their homesign systems, nevertheless comprehended homesign productions out of context better than the homesigners' mothers. This suggests that homesign has comprehensible structure, to which mothers and other family members are not fully sensitive. Taken together, these studies show that communicative problem solving is not responsible for the development of structure in homesign systems. The role of this mechanism must therefore be re-evaluated in constructivist theories of language development.
[Mh] Termos MeSH primário: Compreensão
Surdez/psicologia
Desenvolvimento da Linguagem
Linguística
Linguagem de Sinais
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Gestos
Seres Humanos
Masculino
Meia-Idade
Mães/psicologia
Irmãos/psicologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


  10 / 21528 MEDLINE  
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[PMID]:29304186
[Au] Autor:Honeder C; Liepins R; Arnoldner C; Sinkovec H; Kaider A; Vyskocil E; Riss D
[Ad] Endereço:Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
[Ti] Título:Fixed and adaptive beamforming improves speech perception in noise in cochlear implant recipients equipped with the MED-EL SONNET audio processor.
[So] Source:PLoS One;13(1):e0190718, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the impact of the fixed and adaptive beamforming technology of the new MED-EL SONNET cochlear implant audio processor on speech perception in noise. METHODS: The study cohort comprises 18 postlingually deafened adult cochlear implant recipients with at least six months of experience. Speech reception thresholds were measured with the Oldenburg Sentence Test in continuous, speech-shaped noise. Target sentences were presented in front of the listener, with noise sources placed at -135° and 135°, respectively. Outcome measures were the differences in speech reception threshold using omnidirectional, fixed and adaptive beamformer microphone settings. RESULTS: The use of directional microphones significantly improved speech reception thresholds: fixed beamformer vs. omnidirectional: 4.3 dB (95%-CI [3.1; 5.5]), p<0.0001; adaptive beamformer vs. omnidirectional: 6.1 dB (95%-CI [4.9; 7.3]), p<0.0001; and adaptive beamformer vs. fixed beamformer: 1.8 dB (95%-CI [0.7; 3.0]), p = 0.001. CONCLUSION: This study confirms the previously reported improvements in speech perception in noise of the fixed beamformer microphone setting and is the first to report significant improvements in speech perception in noise when applying the adaptive beamformer microphone settings of the SONNET audio processor. Cochlear implant users may be able to benefit from improved hearing performance especially in difficult listening situations.
[Mh] Termos MeSH primário: Implantes Cocleares
Surdez/reabilitação
Percepção da Fala
[Mh] Termos MeSH secundário: Adolescente
Idoso
Algoritmos
Feminino
Seres Humanos
Masculino
Meia-Idade
Ruído
Limiar Sensorial
Método Simples-Cego
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180106
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190718



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