Bernhard Zabel

机构：Otto-von-Guericke-Universität Magdeburg · ORCID：0000-0002-7796-2991

发表论文 236 篇 · 总被引 17639 次 · h-index 66

代表论文

Nosology and classification of genetic skeletal disorders: 2010 revision (2011 · American Journal of Medical Genetics Part A · 被引 716)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes (2010 · Nature Genetics · 被引 518)
Mutations in WNT1 Cause Different Forms of Bone Fragility (2013 · The American Journal of Human Genetics · 被引 287)
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias (2011 · The American Journal of Human Genetics · 被引 235)
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity (2011 · Nature Genetics · 被引 190)
Interaction of TGFβ and BMP Signaling Pathways during Chondrogenesis (2011 · PLoS ONE · 被引 139)