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.In memoriam James L. German, a pioneer in early human genetic research
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 5, 2018 Category: Genetics & Stem Cells Authors: Joanna Groden,
Eberhard Passarge Source Type: research
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant
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 4, 2018 Category: Genetics & Stem Cells Authors: Chen G. Han,
Kevin J. O'Brien,
Lea M. Coon,
Julie A. Majerus,
Laryssa A. Huryn,
Sara G. Haroutunian,
Nagabhishek Moka,
Wendy J. Introne,
Ellen Macnamara,
William A. Gahl,
May Christine V. Malicdan,
Dong Chen,
Koyamangalath Krishnan,
Bernadett Source Type: research
Copy number variations in a population with prune belly 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 4, 2018 Category: Genetics & Stem Cells Authors: Nida S. Iqbal,
Thomas A. Jascur,
Steven Harrison,
Catherine Chen,
Michelle K. Arevalo,
Daniel Wong,
Emma Sanchez,
Gwen Grimsby,
Kathleen Wilson,
Linda A. Baker Source Type: research
Confirmation of spondylo ‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type
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 4, 2018 Category: Genetics & Stem Cells Authors: Belinda Campos ‐Xavier,
R. Curtis Rogers,
Florence Niel‐Bütschi,
Catarina Ferreira,
Sheila Unger,
Jürgen Spranger,
Andrea Superti‐Furga Source Type: research
First data from a parent ‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
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 2, 2018 Category: Genetics & Stem Cells Authors: Elizabeth A. Mannino,
Hanae Miyawaki,
Gijs Santen,
Samantha A. Schrier Vergano Source Type: research
Association of hypocalcemia with congenital heart disease 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 2, 2018 Category: Genetics & Stem Cells Authors: Arpana Rayannavar,
Lorraine E. Levitt Katz,
Terrence Blaine Crowley,
Megan Lessig,
Katheryn Grand,
Elizabeth Goldmuntz,
Elaine H. Zackai,
Donna M. McDonald ‐McGinn Source Type: research
Multicenter study of mortality in achondroplasia
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 2, 2018 Category: Genetics & Stem Cells Authors: S. Shahrukh Hashmi,
Candace Gamble,
Julie Hoover ‐Fong,
Adekemi Yewande Alade,
Richard M. Pauli,
Peggy Modaff,
Meagan Carney,
Cassondra Brown,
Michael B. Bober,
Jacqueline T. Hecht Source Type: research
Congenital lumbar hernia –A feature of diabetic embryopathy?
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 1, 2018 Category: Genetics & Stem Cells Authors: Cathy A. Stevens,
Jacob S. Hogue,
Robert J. Hopkin,
Rachel C. Lombardo,
Samantha A. Schrier Vergano Source Type: research
The effect of steroid treatment on weight in nonambulatory males with Duchenne muscular dystrophy
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 26, 2018 Category: Genetics & Stem Cells Authors: Molly M. Lamb,
Bo Cai,
Julie Royer,
Shree Pandya,
Aida Soim,
Rodolfo Valdez,
Carolyn DiGuiseppi,
Katherine James,
Nedra Whitehead,
Holly Peay,
Swamy Y. Venkatesh,
Dennis Matthews,
The Muscular Dystrophy Surveillance, Research, and Tracking Net Source Type: research
Heterozygous WNT1 variant causing a variable bone phenotype
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 24, 2018 Category: Genetics & Stem Cells Authors: Shatha Alhamdi,
Yi ‐Chien Lee,
Shimul Chowdhury,
Peter H. Byers,
Michael Gottschalk,
Ryan J. Taft,
Kyu Sang Joeng,
Brendan H. Lee,
Lynne M. Bird Source Type: research
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis
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 23, 2018 Category: Genetics & Stem Cells Authors: Mathilde Lefebvre,
Anne ‐Marie Beaufrere,
Christine Francannet,
Helene Laurichesse,
Charlotte Poe,
Thibaud Jouan,
Baptiste Troude,
Pierre Dechelotte,
Pierre Vabres,
Marie Briard,
Anne‐Laure Mosca‐Boidron,
Yannis Duffourd,
Laurence Faivre Source Type: research
Phenotypic and molecular insights into PQBP1 ‐related intellectual disability
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 23, 2018 Category: Genetics & Stem Cells Authors: Ghada M. H. Abdel ‐Salam,
Noriko Miyake,
Mohamed S. Abdel‐Hamid,
Inas S. M. Sayed,
Mohamed I. Gadelhak,
Samira I. Ismail,
Mona S. Aglan,
Hanan H. Afifi,
Samia A. Temtamy,
Naomichi Matsumoto Source Type: research
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis
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 23, 2018 Category: Genetics & Stem Cells Authors: Ilina Datkhaeva,
Valerie A. Arboleda,
T. Niroshi Senaratne,
Gelareh Nikpour,
Cherise Meyerson,
Yipeng Geng,
Yalda Afshar,
Emily Scibetta,
Jeffrey Goldstein,
Fabiola Quintero ‐Rivera,
Barbara F. Crandall,
Wayne W. Grody,
Joshua Deignan,
Carl Source Type: research
Is PNPT1 ‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders
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 23, 2018 Category: Genetics & Stem Cells Authors: Alison Eaton,
Francois P. Bernier,
Caitlin Goedhart,
Oana Caluseriu,
Ryan E. Lamont,
Kym M. Boycott,
Jillian S. Parboosingh,
A. Micheil Innes,
Care4Rare Canada Consortium Source Type: research
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
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 23, 2018 Category: Genetics & Stem Cells Authors: Mirna Assoum,
Matthew A. Lines,
Orly Elpeleg,
V éronique Darmency,
Sharon Whiting,
Simon Edvardson,
Orrin Devinsky,
Erin Heinzen,
Rebecca Rose Hernan,
Corinne Antignac,
Jean‐François Deleuze,
Vincent Des Portes,
Aurélie Bertholet‐Thomas Source Type: research
