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Refinado por: Título de revista: American Journal Of Medical Genetics. Part A eliminar
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1
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil
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Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

Michelin, Kristiane ; Wajner, Alessandro ; de Souza, Fernanda T.S. ; de Mello, Alexandre S. ; Burin, Maira G. ; Pereira, Maria Luiza S. ; Pires, Ricardo F. ; Giugliani, Roberto ; Coelho, Janice C.

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.58-62 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Complex toe syndactyly with characteristic facial phenotype: A new syndrome?
Complex toe syndactyly with characteristic facial phenotype: A new syndrome?
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Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

Sobreira, Nara Lygia Macena ; Cernach, Mirlene Cecilia S.P. ; Brunoni, Decio ; Perez, Ana Beatriz Alvarez

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1725-1728 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder
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Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder

Sobreira, Nara ; Walsh, Michael F. ; Batista, Denise ; Wang, Tao

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2581-2583 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
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Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

Tabor, Holly K. ; Berkman, Benjamin E. ; Hull, Sara Chandros ; Bamshad, Michael J.

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.2916-2924 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
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Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

Tabor, Holly K. ; Stock, Jacquie ; Brazg, Tracy ; McMillin, Margaret J. ; Dent, Karin M. ; Yu, Joon-Ho ; Shendure, Jay ; Bamshad, Michael J.

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1310-1319 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Finlay–Marks syndrome: Report of two siblings and review of literature
Finlay–Marks syndrome: Report of two siblings and review of literature
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Finlay–Marks syndrome: Report of two siblings and review of literature

Naik, Prashant ; Kini, Pushpa ; Chopra, Deepti ; Gupta, Yogesh

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1696-1701 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum
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De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

Shimojima, Keiko ; Okumura, Akihisa ; Mori, Harushi ; Abe, Shinpei ; Ikeno, Mitsuru ; Shimizu, Toshiaki ; Yamamoto, Toshiyuki

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2272-2276 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Pseudoaminopterin syndrome
Pseudoaminopterin syndrome
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Pseudoaminopterin syndrome

Kraoua, Lilia ; Capri, Yline ; Perrin, Laurence ; Benmansour, Abdelmajjid ; Verloes, Alain

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2233-2238 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Co‐occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion
Co‐occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion
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Co‐occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion

Sagar, Angela ; Bishop, Jeffrey R. ; Tessman, D. Clare ; Guter, Steve ; Martin, Christa L. ; Cook, Edwin H.

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.845-849 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Microdeletion 5q14.3 and anomalies of brain development
Microdeletion 5q14.3 and anomalies of brain development
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Microdeletion 5q14.3 and anomalies of brain development

Hotz, Alrun ; Hellenbroich, Yorck ; Sperner, Jürgen ; Linder-Lucht, Michaela ; Tacke, Uta ; Walter, Caren ; Caliebe, Almuth ; Nagel, Inga ; Saunders, Dawn E. ; Wolff, Gerhard ; Martin, Peter ; Morris-Rosendahl, Deborah J.

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2124-2133 [Revista revisada por pares]

United States: Blackwell Publishing Ltd

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  2. Honjo, R
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  4. Silva, J
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