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Person
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Entries
Bamshad, MJ
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created
[InstanceEdit:2029733] Rothfels, K, 2012-01-04
dbId
2029732
displayName
Bamshad, MJ
firstname
Michael J
initial
MJ
publications
[LiteratureReference:2060834] Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
[LiteratureReference:8849560] Solving glycosylation disorders: fundamental approaches reveal complicated pathways
[LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
[LiteratureReference:2470932] NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
[LiteratureReference:9772486] A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes
[LiteratureReference:2029809] Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
[LiteratureReference:5652121] Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
[LiteratureReference:9698138] The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
schemaClass
Person
surname
Bamshad
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