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7 Publications

2018 | Journal Article | PUB-ID: 2917038
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein
Signorino G, Covaceuszach S, Bozzi M, Hübner W, Mönkemöller V, Konarev PV, Cassetta A, Brancaccio A, Sciandra F (2018)
HUMAN MUTATION 39(2): 266-280.
PUB | DOI | WoS | PubMed | Europe PMC
2017 | Journal Article | PUB-ID: 2913150
The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy
Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschroeder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, et al. (2017)
HUMAN MUTATION 38(8): 947-952.
PUB | DOI | WoS | PubMed | Europe PMC
2014 | Journal Article | PUB-ID: 2691279
A New Workflow for Whole-Genome Sequencing of Single Human Cells
Binder V, Bartenhagen C, Okpanyi V, Gombert M, Moehlendick B, Behrens B, Klein H-U, Rieder H, Krell P, Dugas M, Stoecklein NH, et al. (2014)
Human mutation.
PUB | DOI | WoS | PubMed | Europe PMC
2010 | Journal Article | PUB-ID: 2409400
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases
Töpel T, Scheible D, Trefz F, Hofestädt R (2010)
Human Mutation 31(1): E1081-E1088.
PUB | DOI | WoS | PubMed | Europe PMC
2009 | Journal Article | PUB-ID: 1634511
Planning the Human Variome Project: The Spain Report
Kaput J, Cotton RGH, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, et al. (2009)
HUMAN MUTATION 30(4): 496-510.
PUB | DOI | WoS | PubMed | Europe PMC
2008 | Journal Article | PUB-ID: 2351244 PUB | DOI
2007 | Journal Article | PUB-ID: 1939993
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A (2007)
Human Mutation 28(5): 523.

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