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American Journal of Medical Genetics, Part A

Công bố khoa học tiêu biểu của tạp chí. * Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp

CDG‐IL: An infant with a novel mutation in theALG9gene and additional phenotypic features

American Journal of Medical Genetics, Part A· Tập 136A Số 2 ·Trang 194-197·2005

Michael Weinstein, E Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian Frank, Markus Aebi, Joe T.R. Clarke, Anne M. Griffiths, L E Seargeant, Nicola Poplawski

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

American Journal of Medical Genetics, Part A· Tập 137A Số 1 ·Trang 22-26·2005

Liangwu Sun, Erik A. Eklund, Johan L.K. Van Hove, Hudson H. Freeze, Janet A. Thomas

Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (NPR2) gene

American Journal of Medical Genetics, Part A· Tập 164 Số 1 ·Trang 156-163·2014

Kouji Miura, Ok‐Hwa Kim, Hey Ran Lee, Noriyuki Namba, Toshimi Michigami, Won Joon Yoo, In Ho Choi, Keiichi Ozono, Tae‐Joon Cho

Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification

American Journal of Medical Genetics, Part A· Tập 170 Số 5 ·Trang 1308-1311·2016

Carlos R. Ferreira, Shira G. Ziegler, Ashutosh Gupta, Catherine Groden, Kevin Hsu, William A. Gahl

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

American Journal of Medical Genetics, Part A· Tập 124A Số 3 ·Trang 248-254·2004

Henrik Rueffert, D Olthoff, C. Deutrich, R. Schober, Ursula G. Froster

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American Journal of Medical Genetics, Part A· Tập 167 Số 2 ·Trang 271-281·2015

Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

Muscle involvement and motor function in amyoplasia

American Journal of Medical Genetics, Part A· Tập 140A Số 16 ·Trang 1757-1767·2006

Anna‐Karin Kroksmark, Eva Kimber, Ragnar Jerre, Eva Beckung, M. Tulinius

Genetic contribution for non‐syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

American Journal of Medical Genetics, Part A· Tập 155 Số 7 ·Trang 1581-1587·2011

Luciano Abreu Brito, Lucas Alvizi Cruz, Kátia M. Rocha, Lígia Kobayashi Bárbara, Camila B.F. Silva, Daniela Franco Bueno, Meire Aguena, Débora Romeo Bertola, Diogo Franco, André Monteiro Costa, Nivaldo Alonso, Paulo Alberto Otto, Maria Rita Passos‐Bueno

Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control studies

American Journal of Medical Genetics, Part A· Tập 158A Số 9 ·Trang 2162-2169·2012

Yongchu Pan, Weibing Zhang, Junqing Ma, Yifei Du, Dandan Li, Qi Cai, Hongbing Jiang, Meilin Wang, Zhengdong Zhang, Lin Wang

MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non‐syndromic cleft lip and cleft palate in China

American Journal of Medical Genetics, Part A· Tập 152A Số 2 ·Trang 291-298·2010

Jianghui Zhu, Ling Hao, Song Li, Lynn B. Bailey, Yihua Tian, Li Zhu

Tổng số: 78