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