Human Mutation 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.

Detailed analysis of HTT repeat elements in human blood using targeted amplification ‐free long‐read sequencing
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 22, 2018 Category: Genetics & Stem Cells Authors: IdaH öijer , Yu‐ChihTsai , Tyson A.Clark , PaulKotturi , NiklasDahl , Eva‐LenaStattin , Marie‐LouiseBondeson , LarsFeuk , UlfGyllensten , AdamAmeur Source Type: research

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 22, 2018 Category: Genetics & Stem Cells Authors: CarmenDiez ‐Fernandez , VéroniqueRüfenacht , CorinneGemperle , RalphFingerhut , JohannesHäberle Source Type: research

ClinVar Miner: Demonstrating utility of a Web ‐based tool for viewing and filtering ClinVar data
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 22, 2018 Category: Genetics & Stem Cells Authors: AlexHenrie , Sarah E.Hemphill , NicoleRuiz ‐Schultz , BrandonCushman , Marina T.DiStefano , DanielleAzzariti , Steven M.Harrison , Heidi L.Rehm , KarenEilbeck Source Type: research

Elucidating the genetic architecture of Adams ‐Oliver syndrome in a large European cohort
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 20, 2018 Category: Genetics & Stem Cells Authors: Josephina A.N.Meester , MajaSukalo , Kim C.Schr öder , DennySchanze , GarethBaynam , GuntramBorck , Nuria C.Bramswig , DuyguDuman , BrigitteGilbert‐Dussardier , MurielHolder‐Espinasse , PeterItin , Diana S.Johnson , ShelaghJos Source Type: research

Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 19, 2018 Category: Genetics & Stem Cells Authors: YanhanDeng , ZongzheLi , JuanLiu , ZhengWang , YanyanCao , YongMou , BohuaFu , BiwenMo , JianghongWei , ZhenshunCheng , LimanLuo , JingpingLi , YingShu , XiaomeiWang , GuangweiLuo , ShuoYang , YingnanWang , JingZhu , Ji Source Type: research

De novo mutations in FLNC leading to early ‐onset restrictive cardiomyopathy and congenital myopathy
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 18, 2018 Category: Genetics & Stem Cells Authors: ArtemKiselev , RaquelVaz , AnastasiaKnyazeva , AleksandrKhudiakov , SvetlanaTarnovskaya , JiaoLiu , AlexeySergushichev , SergeyKazakov , DmitrijFrishman , NataliaSmolina , TatianaPervunina , JohnJorholt , GunnarSjoberg , Tati Source Type: research

Results of next generation sequencing gene panel diagnostics including copy number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 16, 2018 Category: Genetics & Stem Cells Authors: ElineOverwater , LuisaMarsili , Marieke J.H.Baars , Annette F.Baas , Irmavan de Beek , EelcoDulfer , Johanna M.van Hagen , YvonneHilhorst ‐Hofstee , MarliesKempers , Ingrid P.Krapels , Leonie A.Menke , Judith M.A.Verhagen , Kak Source Type: research

DMD genotype correlations from duchenneConnect: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation sub ‐type
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 16, 2018 Category: Genetics & Stem Cells Authors: Richard T.Wang , FlorianBarthelemy , Ann S.Martin , Emilie D.Douine , AsciaEskin , AnnLucas , JeniferLavigne , HollyPeay , NegarKhanlou , LeeSweeney , Rita M.Cantor , M. CarrieMiceli , Stanley FNelson Source Type: research