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Insights into the genotype ‐phenotype correlation and molecular function of SLC25A46
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 4, 2018 Category: Genetics & Stem Cells Authors: Alexander J.Abrams , FlaviaFontanesi , Natalie BL.Tan , ElenaBuglo , Ion J.Campeanu , Andrew J.Kornberg , Dean G.Phelan , ZornitzaStark , StephanZuchner Source Type: research

Hyaline fibromatosis syndrome: Clinical update and phenotype ‐genotype correlations
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 3, 2018 Category: Genetics & Stem Cells Authors: D ídacCasas‐Alba , AntonioMartínez‐Monseny , Rosa M.Pino‐Ramírez , LaiaAlsina , EsperanzaCastejón , SergiNavarro‐Vilarrubí , BelénPérez‐Dueñas , MercedesSerrano , FrancescPalau , AlfredoGarcía‐Alix Source Type: research

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 31, 2018 Category: Genetics & Stem Cells Authors: IrinaZaharieva , AnnaSarkozy , PinkiMunot , AdnanManzur , GinaO'Grady , JohnRendu , EduardoMalfatti , HelgeAmthor , LaurentServais , J. AndoniUrtizberea , Osorio AbathNeto , EdmarZanoteli , SandraDonkervoort , JulietTaylor , J Source Type: research

Erratum
Human Mutation,Volume 39, Issue 9, Page 1299-1299, September 2018. (Source: Human Mutation)
Source: Human Mutation - August 31, 2018 Category: Genetics & Stem Cells Source Type: research

Cover Image, Volume 39, Issue 9
Human Mutation,Volume 39, Issue 9, Page i-i, September 2018. (Source: Human Mutation)
Source: Human Mutation - August 31, 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 F.Nelson Source Type: research

Back Cover, Volume 39, Issue 9
Human Mutation,Volume 39, Issue 9, Page ii-ii, September 2018. (Source: Human Mutation)
Source: Human Mutation - August 31, 2018 Category: Genetics & Stem Cells Authors: GemmaMontalban , EugeniaFraile ‐Bethencourt , IreneLópez‐Perolio , PedroPérez‐Segura , MarInfante , MercedesDurán , María ConcepciónAlonso‐Cerezo , AdriàLópez‐Fernández , OrlandDiez , Migueldela Hoya , Eladio A.Velasc Source Type: research

Issue Information
Human Mutation,Volume 39, Issue 9, Page 1151-1154, September 2018. (Source: Human Mutation)
Source: Human Mutation - August 31, 2018 Category: Genetics & Stem Cells Source Type: research

A single ‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion 
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 30, 2018 Category: Genetics & Stem Cells Authors: GraziaNardella , GraziaVisci , VitoGuarnieri , StefanoCastellana , TommasoBiagini , LuigiBisceglia , OrazioPalumbo , MarinaTrivisano , CarmelaVaira , MassimoScerrati , DavideDebrasi , VincenzoD'Angelo , MassimoCarella , GiuseppeM Source Type: research