Concepedia
Statistics
Publications
8
Citations
457
H-Index
Active since
1999
Affiliations
University of Bremen(Current)
University Medical Center Groningen
Amsterdam UMC Location University of Amsterdam
University of Groningen
Radboud University Nijmegen
Jörg Müsebeck is an author at University of Bremen specializing in medicine, genetics, and molecular genetics.
Top concepts
GeneticsMedicineClinical GeneticsMolecular GeneticsGenomicsAndrologyFertilityNeurologyPathologyGynecology
Publications per year
1999–2014
Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text
Oculocutaneous albinism with <i>TYRP1</i> gene mutations in a Caucasian patient
Caroline Rooryck, Christel Roudaut, Eulalie Robine et al. · Pigment Cell Research · 2006 · 77 citations
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus
Hendrik Milting, Bärbel Klauke, Alex Hørby Christensen et al. · European Heart Journal · 2014 · 76 citations
Molecular mechanisms underlying hemophilia A phenotype in seven females
Anna Pavlova, H. Brondke, Jörg Müsebeck et al. · Journal of Thrombosis and Haemostasis · 2009 · 64 citations
Genetics, Pathogenesis, Hematology +5
Variants in<i>CUL4B</i>are Associated with Cerebral Malformations
Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson et al. · Human Mutation · 2014 · 45 citations · Full text
Mendelian Disorder, Brain Development, Neurological Disorder +13
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