American Journal of Medical Genetics Part A 
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This 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.Neurologic challenges in 22q11.2 deletion 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 - October 26, 2018 Category: Genetics & Stem Cells Authors: Sarah E. Hopkins,
Madeline Chadehumbe,
Terrence Blaine Crowley,
Elaine H. Zackai,
Larissa T. Bilaniuk,
Donna M. McDonald ‐McGinn Source Type: research
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys 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 - October 26, 2018 Category: Genetics & Stem Cells Authors: C. Lemattre,
J. Thevenon,
Y. Duffourd,
S. Nambot,
E. Haquet,
B. Vuadelle,
D. Genevieve,
P. Sarda,
A. L. Bruel,
P. Kuentz,
C. F. Wells,
L. Faivre,
M. Willems Source Type: research
PRICKLE1 ‐related early onset epileptic encephalopathy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Mario Mastrangelo,
Manuela Tolve,
Martina Martinelli,
Sofia P. Di Noia,
Elena Parrini,
Vincenzo Leuzzi Source Type: research
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle ‐Eastern origin
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Ameera Balobaid,
Tawfeg Ben ‐Omran,
Khushnooda Ramzan,
Ruqaiah Altassan,
Mariam Almureikhi,
Sara Musa,
Nadia Al‐Hashmi,
Mohammed Al‐Owain,
Hamad Al‐Zaidan,
Zuhair Al‐Hassnan,
Faiqa Imtiaz,
Moeenaldeen Al‐Sayed Source Type: research
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Sarah L. Dugan,
Emanuele Panza,
Amanda Openshaw,
Lorenzo D. Botto,
Jose A. Camacho,
Reha M. Toydemir Source Type: research
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Rachel Rabin,
Francisca Millan,
Juan Cabrera ‐Luque,
John Pappas Source Type: research
Characterization of the hepatosplenic and portal venous findings in patients with Proteus 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 - October 22, 2018 Category: Genetics & Stem Cells Authors: Varun Takyar,
Divya Khattar,
Alexander Ling,
Rachna Patel,
Julie C. Sapp,
Sun A. Kim,
Sungyoung Auh,
Leslie G. Biesecker,
Kim M. Keppler ‐Noreuil,
Theo Heller Source Type: research
Metabolic responses to walking in children with Prader ‐Willi syndrome on growth hormone replacement therapy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Adam M. Hyde,
Frank A. Chavoya,
Fabiano V. Silveira,
William C. Beam,
Daniela A. Rubin Source Type: research
Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Jasmien Roosenboom,
Robert Hermans,
Frederik Lammens,
Jean Louis Samain,
Koen Devriendt,
Vincent Vander Poorten,
Peter W. Hellings,
Mark Jorissen,
Hilde Peeters,
Peter Claes,
Greet Hens Source Type: research
Developmental delay and failure to thrive associated with a loss ‐of‐function variant in WHSC1 (NSD2)
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Nicole J. Boczek,
Carrie A. Lahner,
Thuy ‐mi Nguyen,
Matthew J. Ferber,
Linda Hasadsri,
Erik C. Thorland,
Zhiyv Niu,
Ralitza H. Gavrilova Source Type: research
A 23 ‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 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 - October 17, 2018 Category: Genetics & Stem Cells Authors: Alina T. Midro,
Beata Stasiewicz ‐Jarocka,
Jan Borys,
Kazimierz Kozłowski,
Bożena Skotnicka,
Eugeniusz Tarasów,
Ewa Hubert,
Jerzy Konstantynowicz,
Barbara Panasiuk,
Małgorzata Rydzanicz,
Agnieszka Pollak,
Piotr Stawiński,
Rafał Skowro Source Type: research
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2018 Category: Genetics & Stem Cells Authors: Mar ía Elena Rodríguez‐García,
Francisco Javier Cotrina‐Vinagre,
Jaime Cruz‐Rojo,
Lucía Garzón‐Lorenzo,
Patricia Carnicero‐Rodríguez,
Jaime Sánchez‐Del Pozo,
Francisco Martínez‐Azorín Source Type: research
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2018 Category: Genetics & Stem Cells Authors: Pascaline L étard,
Fabien Guimiot,
Céline Dupont,
Jonathan Rosenblatt,
Anne‐Lise Delezoide,
Suonavy Khung‐Savatovsky Source Type: research
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Katherine A. Rauen,
Lisa Schoyer,
Lisa Schill,
Beth Stronach,
John Albeck,
Brage S. Andresen,
H élène Cavé,
Michelle Ellis,
Steven M. Fruchtman,
Bruce D. Gelb,
Christopher C. Gibson,
Karen Gripp,
Erin Hefner,
William Y. C. Huang,
Maxim It Source Type: research
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3 ‐associated leukodystrophy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Rahul M. Nikam,
Karen W. Gripp,
Arabinda K. Choudhary,
Vinay Kandula Source Type: research
