Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Benedetta Ruzzenente,
Zahra Assouline,
Giulia Barcia,
Marl ène Rio,
Nathalie Boddaert,
Arnold Munnich,
Agnès Rötig,
Metodi D. Metodiev Source Type: research
matchbox: An open ‐source tool for patient matching via the Matchmaker Exchange
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Harindra Arachchi,
Monica H Wojcik,
Benjamin Weisburd,
Julius O. B. Jacobsen,
Elise Valkanas,
Samantha Baxter,
Alicia B. Byrne,
Anne H. O'Donnell ‐Luria,
Melissa Haendel,
Damian Smedley,
Daniel G. MacArthur,
Anthony A. Philippakis,
Heidi L. Source Type: research
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing and disease
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Peter J. Houweling,
Ioannis D. Papadimitriou,
Jane T. Seto,
Laura M. P érez,
Juan Del Coso,
Kathryn N. North,
Alejandro Lucia,
Nir Eynon Source Type: research
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Benedetta Ruzzenente,
Zahra Assouline,
Giulia Barcia,
Marl ène Rio,
Nathalie Boddaert,
Arnold Munnich,
Agnès Rötig,
Metodi D. Metodiev Source Type: research
The mutation ‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 27, 2018 Category: Genetics & Stem Cells Authors: Ágnes Mikó,
Dóra K. Menyhárd,
Ambrus Kaposi,
Corinne Antignac,
Kálmán Tory Source Type: research
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic L ‐amino acid decarboxylase deficiency
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 27, 2018 Category: Genetics & Stem Cells Authors: Chi ‐Ren Tsai,
Hsiu‐Fen Lee,
Ching‐Shiang Chi,
Ming‐Te Yang,
Chia‐Chi Hsu Source Type: research
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 27, 2018 Category: Genetics & Stem Cells Authors: Jeffrey Schubert,
Muhammad Tariq,
Gabrielle Geddes,
Steven Kindel,
Erin M. Miller,
Stephanie M. Ware Source Type: research
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 25, 2018 Category: Genetics & Stem Cells Authors: Stefania Magri,
Valentina Fracasso,
Massimo Plumari,
Enrico Alfei,
Daniele Ghezzi,
Cinzia Gellera,
Paola Rusmini,
Angelo Poletti,
Daniela Di Bella,
Antonio E. Elia,
Chiara Pantaleoni,
Franco Taroni Source Type: research
BRCA1 and BRCA2 5 ′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - September 24, 2018 Category: Genetics & Stem Cells Authors: Leslie J. Burke,
Jan Sevcik,
Gaetana Gambino,
Emma Tudini,
Eliseos J. Mucaki,
Ben C. Shirley,
Phillip Whiley,
Michael T. Parsons,
Kim Leeneer,
Sara Guti érrez‐Enríquez,
Marta Santamariña,
Sandrine M. Caputo,
Elizabeth Santana dos Santos, Source Type: research
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li ‐Fraumeni syndrome
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 21, 2018 Category: Genetics & Stem Cells Authors: CristinaFortuno
,
PaulJames
,
Amanda B.Spurdle Source Type: research
matchbox: An open ‐source tool for patient matching via the Matchmaker Exchange
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 21, 2018 Category: Genetics & Stem Cells Authors: HarindraArachchi
,
Monica HWojcik
,
BenjaminWeisburd
,
Julius O. B.Jacobsen
,
EliseValkanas
,
SamanthaBaxter
,
Alicia B.Byrne
,
Anne H.O'Donnell ‐Luria
,
MelissaHaendel
,
DamianSmedley
,
Daniel G.MacArthur
,
Anthony A.Philippakis
Source Type: research
Cover Image, Volume 39, Issue 10
Human Mutation,Volume 39, Issue 10, Page i-i, October 2018. (Source: Human Mutation)
Source: Human Mutation - September 19, 2018 Category: Genetics & Stem Cells Authors: RosangelaFerese
,
MonicaBonetti
,
FedericaConsoli
,
ValentinaGuida
,
AnnaSarkozy
,
Francesca RomanaLepri
,
PaoloVersacci
,
StefanoGambardella
,
GiulioCalcagni
,
KatiaMargiotti
,
FrancescaPiceci Sparascio
,
HosseinHozhabri
,
Tommaso Source Type: research
Issue Information
Human Mutation,Volume 39, Issue 10, Page 1301-1303, October 2018. (Source: Human Mutation)
Source: Human Mutation - September 19, 2018 Category: Genetics & Stem Cells Source Type: research
Cover Image, Volume 39, Issue 10
Human Mutation,Volume 39, Issue 10, Page i-i, October 2018. (Source: Human Mutation)
Source: Human Mutation - September 19, 2018 Category: Genetics & Stem Cells Authors: RosangelaFerese
,
MonicaBonetti
,
FedericaConsoli
,
ValentinaGuida
,
AnnaSarkozy
,
Francesca RomanaLepri
,
PaoloVersacci
,
StefanoGambardella
,
GiulioCalcagni
,
KatiaMargiotti
,
FrancescaPiceci Sparascio
,
HosseinHozhabri
,
Tommaso Source Type: research
