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.

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: Heather M.Byers , MaidaChen , Andrew S.Gelfand , BruceOng , MarisaJendras , Ian A.Glass Source Type: research

Mutations in SZT2 result in early ‐onset epileptic encephalopathy and leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: AmyPizzino , MatthewWhitehead , ParisaSabet Rasekh , JenniferMurphy , GuyHelman , MiriamBloom , Sarah H.Evans , John G.Murnick , JoanConry , Ryan J.Taft , CasSimons , AdelineVanderver , Laura A.Adang Source Type: research

Delayed peak response of cortisol to insulin tolerance test in patients with Prader –Willi 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: YujiOto , KeikoMatsubara , TadayukiAyabe , MasahisaShiraishi , NobuyukiMurakami , HiroshiIhara , TomoyoMatsubara , ToshiroNagai Source Type: research

A German ‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: Arno G.Motulsky Source Type: research

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: Cathy A.Stevens , IanKrantz Source Type: research

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: AnkitaPrasad , OliviaGrocott , KimberlyParkin , AnnaLarson , Ronald L.Thibert Source Type: research

Arno G. Motulsky, 1923 –2018, Luck and Service
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1285-1288, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: John M.Opitz Source Type: research

An assessment of health, social, communication, and daily living skills of adults with Down syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1389-1397, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Theodora J.Matthews , Dawn C.Allain , Anne L.Matthews , AnnaMitchell , Stephanie L.Santoro , LeslieCohen Source Type: research

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1432-1437, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research

Association of 17q24.2 ‐q24.3 deletions with recognizable phenotype and short telomeres
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1438-1442, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: MiroslavaHancarova , MarcelaMalikova , MichaelaKotrova , JanaDrabova , MarieTrkova , ZdenekSedlacek Source Type: research

X ‐linked intellectual disability update 2017
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1375-1388, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: GiovanniNeri , Charles E.Schwartz , Herbert A.Lubs , Roger E.Stevenson Source Type: research

The phenotypic spectrum of Xia ‐Gibbs syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1315-1326, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: YunyunJiang , Michael F.Wangler , Amy L.McGuire , James R.Lupski , Jennifer E.Posey , Michael M.Khayat , David R.Murdock , LuisSanchez ‐Pulido , Chris P.Ponting , FanXia , Jill V.Hunter , QingchangMeng , MullaiMurugan Source Type: research

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1398-1404, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Heather M.Byers , MaidaChen , Andrew S.Gelfand , BruceOng , MarisaJendras , Ian A.Glass Source Type: research

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1449-1454, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: AstridBehnert , BerndAuber , DorisSteinemann , Michael C.Fr ühwald , CarolinHuisinga , KaisHussein , ChristianKratz , TimRipperger Source Type: research