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Autosomal ‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: LyseRuaud , Gillian I.Rice , ChristelleCabrol , JuliettePiard , MathieuRodero , Lienvan Eyk , EliseBoucher ‐Brischoux , Alain Maertensde Noordhout , RicardoMaré , EmmanuelScalais , FernandPauly , François‐GuillaumeDebray , Source Type: research

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: YohanBignon , AlexiAlekov , NadiaFrachon , OlivierLahuna , CarineJean ‐Baptiste Doh‐Egueli , GeorgesDeschênes , RosaVargas‐Poussou , StéphaneLourdel Source Type: research

Targeted sequencing with expanded gene profile enables high diagnostic yield in non ‐5q‐spinal muscular atrophies
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 2, 2018 Category: Genetics & Stem Cells Authors: MertKarakaya , MarkusStorbeck , Eike A.Strathmann , Andrea DelleVedove , IrmgardH ölker , JanineAltmueller , LeylaNaghiyeva , LeaSchmitz‐Steinkrüger , KatharinaVezyroglou , SusanneMotameny , SalemAlawbathani , HolgerThiele , Ay Source Type: research

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond –Blackfan anemia
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - May 29, 2018 Category: Genetics & Stem Cells Authors: AnnaAspesi , MartaBetti , MarikaSculco , ChiaraActis , CristinaOlgasi , Marcin W.Wlodarski , AdriannaVlachos , Jeffrey M.Lipton , UgoRamenghi , ClaudioSantoro , AntoniaFollenzi , Steven R.Ellis , IrmaDianzani Source Type: research