American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A RSS feedThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 4, 2018 Category: Genetics & Stem Cells Authors: Adam W. Powell , John L. Jefferies , Robert J. Hopkin , Wayne A. Mays , Zhiqian Goa , Clifford Chin Source Type: research

Pain and sleep quality in children with non ‐vascular Ehlers–Danlos syndromes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 4, 2018 Category: Genetics & Stem Cells Authors: Michael Muriello , Julia L. Clemens , Weiyi Mu , Phuong T. Tran , Peter C. Rowe , Christy H. Smith , Clair Francomano , Joann Bodurtha , Antonie D. Kline Source Type: research

Multilineage ACTB mutation in a patient with fibro ‐osseous maxillary lesion and pilocytic astrocytoma
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Young H. Lim , Andrea B. Burke , Mary S. Roberts , Michael T. Collins , Keith A. Choate Source Type: research

Isolated dentinogenesis imperfecta with glass ‐like enamel caused by COL1A2 mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Piranit Nik Kantaputra , Wannapa Chinadet , Worrachet Intachai , Chumpol Ngamphiw , James R. Ketudat Cairns , Sissades Tongsima Source Type: research

Phenotypic diversity of patients diagnosed with VACTERL association
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Majid Husain , Marina Dutra ‐Clarke , Bryan Lemieux , Marie Wencel , Benjamin D. Solomon , Virginia Kimonis Source Type: research

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Shino Shimada , Kyoko Hirasawa , Akiko Takeshita , Hidetsugu Nakatsukasa , Keiko Yamamoto ‐Shimojima , Taichi Imaizumi , Satoru Nagata , Toshiyuki Yamamoto Source Type: research

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Andrea Merker , Luitgard Neumeyer , Niels Thomas Hertel , Giedre Grigelioniene , Klaus Mohnike , Lars Hagen äs Source Type: research

Intrafamilial clinical variability in four families with incontinentia pigmenti
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Luiza M. Mariath , Fernanda D. Santa Maria , Cl áudia S. Poziomczyk , Giovanni M. Travi , Gabriela E. Wachholz , Stephanie R. De Souza , Ana E. Kiszewski , Lavínia Schuler‐Faccini Source Type: research

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Eriko Nishi , Mizue Takasugi , Rie Kawamura , Soichi Shibuya , Shigeru Takamizawa , Takehiko Hiroma , Tomohiko Nakamura , Tomoki Kosho Source Type: research

Variable Clinical Manifestations of Xia ‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Alyssa L. Ritter , Carey McDougall , Cara Skraban , Livija Medne , Emma C. Bedoukian , Stephanie B. Asher , Jorune Balciuniene , Colleen D. Campbell , Samuel W. Baker , Elizabeth H. Denenberg , Sarah Mazzola , Source Type: research

Silver Russel syndrome in an aboriginal patient from Australia
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Cathryn Poulton , Dimitar Azmanov , Vanessa Atkinson , John Beilby , Lisa Ewans , Dylan Gration , Lauren Dreyer , Vinutha Shetty , Ciara Peake , Emma McCormack , Richard Palmer , Barry Lewis , Hugh Dawkins Source Type: research

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 27, 2018 Category: Genetics & Stem Cells Authors: Monica H. Wojcik , Kyoko Okada , Sanjay P. Prabhu , Dan W. Nowakowski , Keri Ramsey , Chris Balak , Sampath Rangasamy , Catherine A. Brownstein , Klaus Schmitz ‐Abe , Julie S. Cohen , Ali Fatemi , Jiahai Shi Source Type: research

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 25, 2018 Category: Genetics & Stem Cells Authors: Christine P. Burren , Richard Caswell , Bruce Castle , C. Ross Welch , Tom N. Hilliard , Sarah F. Smithson , Sian Ellard Source Type: research

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 25, 2018 Category: Genetics & Stem Cells Authors: Dalila De Vita , Davide Mei , Domenico Rutigliano , Niccol ò Bartalucci , Claudia Maria Cinnante , Elena Parrini , Robertino Dilena , Renzo Guerrini Source Type: research

Cover Image, Volume 176A, Number 8, August 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 8, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Authors: ArunkanthAnkala , NierajJain , BakerHubbard , John J.Alexander , Suma P.Shankar Source Type: research