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The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C ‐terminal peptide of the ClC‐1 channel
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 5, 2018 Category: Genetics & Stem Cells Authors: ConcettaAltamura , SabrinaLucchiari , DalilaSahbani , GiannaUlzi , Giacomo P.Comi , PaolaD'Ambrosio , RobertaPetillo , LuisaPolitano , LilianaVercelli , TizianaMongini , Maria TeresaDotti , RosannaCardani , GiovanniMeola , MauroL Source Type: research

Elucidating the genetic architecture of Adams –Oliver syndrome in a large European cohort
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 5, 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

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C ‐terminal peptide of the ClC‐1 channel
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 5, 2018 Category: Genetics & Stem Cells Authors: ConcettaAltamura , SabrinaLucchiari , DalilaSahbani , GiannaUlzi , Giacomo P.Comi , PaolaD'Ambrosio , RobertaPetillo , LuisaPolitano , LilianaVercelli , TizianaMongini , Maria TeresaDotti , RosannaCardani , GiovanniMeola , MauroL Source Type: research

Elucidating the genetic architecture of Adams –Oliver syndrome in a large European cohort
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - July 5, 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

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G   >  T as a case study
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: GemmaMontalban , EugeniaFraile ‐Bethencourt , IreneLópez‐Perolio , PedroPérez‐Segura , MarInfante , MercedesDurán , María ConcepciónAlonso‐Cerezo , AdriàLópez‐Fernández , OrlandDiez , Miguelde la Hoya , Eladio A.Vel Source Type: research

Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: Nguyen DangTon , HidewakiNakagawa , Nguyen HaiHa , Nguyen ThuyDuong , Vu PhuongNhung , Le Thi ThuHien , Huynh Thi ThuHue , Nguyen HuyHoang , Jing HaoWong , KaoruNakano , KazuhiroMaejima , AyaSasaki ‐Oku , TatsuhikoTsunoda , Aki Source Type: research

Rare RELN variants affect Reelin ‐DAB1 signal transduction in autism spectrum disorder
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: Sandra M.S ánchez‐Sánchez , JulianaMagdalon , KarinaGriesi‐Oliveira , GuilhermeYamamoto , CarolinaSantacruz‐Perez , MarianaFogo , Maria RitaPassos‐Bueno , Andrea L.Sertié Source Type: research

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G   >  T as a case study
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: GemmaMontalban , EugeniaFraile ‐Bethencourt , IreneLópez‐Perolio , PedroPérez‐Segura , MarInfante , MercedesDurán , María ConcepciónAlonso‐Cerezo , AdriàLópez‐Fernández , OrlandDiez , Miguelde la Hoya , Eladio A.Vel Source Type: research

Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: Nguyen DangTon , HidewakiNakagawa , Nguyen HaiHa , Nguyen ThuyDuong , Vu PhuongNhung , Le Thi ThuHien , Huynh Thi ThuHue , Nguyen HuyHoang , Jing HaoWong , KaoruNakano , KazuhiroMaejima , AyaSasaki ‐Oku , TatsuhikoTsunoda , Aki Source Type: research

Rare RELN variants affect Reelin ‐DAB1 signal transduction in autism spectrum disorder
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - July 3, 2018 Category: Genetics & Stem Cells Authors: Sandra M.S ánchez‐Sánchez , JulianaMagdalon , KarinaGriesi‐Oliveira , GuilhermeYamamoto , CarolinaSantacruz‐Perez , MarianaFogo , Maria RitaPassos‐Bueno , Andrea L.Sertié Source Type: research

Further delineation of Malan syndrome
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 25, 2018 Category: Genetics & Stem Cells Authors: ManuelaPriolo , DennySchanze , KatrinTatton ‐Brown , Paul A.Mulder , JairTenorio , KreepaKooblall , Inés HernándezAcero , Fowzan S.Alkuraya , PedroArias , LauraBernardini , Emilia K.Bijlsma , TrevorCole , ChristineCoubes , Ir Source Type: research

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C ‐terminal peptide of ClC‐1 channel
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 23, 2018 Category: Genetics & Stem Cells Authors: ConcettaAltamura , SabrinaLucchiari , DalilaSahbani , GiannaUlzi , Giacomo P.Comi , PaolaD'Ambrosio , RobertaPetillo , LuisaPolitano , LilianaVercelli , TizianaMongini , Maria TeresaDotti , RosannaCardani , GiovanniMeola , MauroL Source Type: research