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.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities
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 28, 2018 Category: Genetics & Stem Cells Authors: Ana ëlleLenormand , RomanKhonsari , PierreCorre , Jean PhilippePerrin , CécileBoscher , MathildeNizon , OlivierPichon , AlbertDavid , CedricLe Caignec , HeliosBertin , BertrandIsidor Source Type: research

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal 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 - April 28, 2018 Category: Genetics & Stem Cells Authors: Chlo éQuélin , PhilippeLoget , LucileBoutaud , NadiaElkhartoufi , JoelleMilon , SylvieOdent , MélanieFradin , FlorenceDemurger , LaurentPasquier , SophieThomas , TaniaAttié‐Bitach Source Type: research

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
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 28, 2018 Category: Genetics & Stem Cells Authors: SharolinBoban , HelenLeonard , KingsleyWong , AndrewWilson , JennyDowns Source Type: research

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
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 28, 2018 Category: Genetics & Stem Cells Authors: DavidOwen , AnaT öpf , VeeramaniPreethish‐Kumar , Paolo JoséLorenzoni , BasVroling , Rosana HerminiaScola , ElzaDias‐Tosta , ArgemiroGeraldo , KiranPolavarapu , SaraswatiNashi , DanielCox , TeresinhaEvangelista , Source Type: research

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
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: AnnSwillen , EdwardMoss , SasjaDuijff 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,Volume 176, Issue 6, Page 1289-1295, June 2018. (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

Arno G. Motulsky, 1923 –2018, Luck and Service
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: John M.Opitz Source Type: research

The phenotypic spectrum of Xia ‐Gibbs 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: 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

X ‐linked intellectual disability update 2017
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: GiovanniNeri , Charles E.Schwartz , Herbert A.Lubs , Roger E.Stevenson 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, 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: Theodora J.Matthews , Dawn C.Allain , Anne L.Matthews , AnnaMitchell , Stephanie L.Santoro , LeslieCohen Source Type: research

Association of 17q24.2 ‐q24.3 deletions with recognizable phenotype and short telomeres
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: MiroslavaHancarova , MarcelaMalikova , MichaelaKotrova , JanaDrabova , MarieTrkova , ZdenekSedlacek Source Type: research

Functional independence of Taiwanese children 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: Chung ‐LinLee , Hsiang‐YuLin , Li‐PingTsai , Huei‐ChingChiu , Ru‐YiTu , You‐HsinHuang , Yin‐HsiuChien , Ni‐ChungLee , Dau‐MingNiu , Mei‐ChynChao , Fuu‐JenTsai , Yen‐YinChou , Chih‐KuangChuang Source Type: research

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
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: AnnSwillen , EdwardMoss , SasjaDuijff Source Type: research

The ontogeny of Robin sequence
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: Robrecht J. H.Logjes , Corstiaan C.Breugem , GijsVan Haaften , Emma C.Paes , Geoffrey H.Sperber , Marie ‐José H.van den Boogaard , Peter G.Farlie 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, 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: AstridBehnert , BerndAuber , DorisSteinemann , Michael C.Fr ühwald , CarolinHuisinga , KaisHussein , ChristianKratz , TimRipperger Source Type: research