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Mutations in ECEL1 cause distal arthrogryposis type 5D
Margaret J. McMillin
, Jennifer E. Below
, Kathryn M. Shively
, Anita E. Beck
, Heidi I. Gildersleeve
, Jason Pinner
, Gloria R. Gogola
, Jacqueline T. Hecht
,
Dorothy K. Grange
, David J. Harris
, Dawn L. Earl
, Sujatha Jagadeesh
, Sarju G. Mehta
, Stephen P. Robertson
, James M. Swanson
, Elaine M. Faustman
, Heather C. Mefford
, Jay Shendure
, Deborah A. Nickerson
, Michael J. Bamshad
Center for the Investigation of Membrane Excitability Diseases
Institute of Clinical and Translational Sciences (ICTS)
Division of Genetics and Genomic Medicine
Research output
:
Contribution to journal
›
Article
›
peer-review
70
Scopus citations
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Keyphrases
Autosomal Recessive
25%
Congenital Contractures
75%
Consanguineous Family
25%
Contractile Proteins
25%
Developmental Pathways
25%
Distal Arthrogryposis
100%
Distinctive Facial Features
25%
Endopeptidase
25%
Endothelin-1 (ET-1)
100%
Enzyme-like
100%
Linkage Analysis
25%
Motor Neuron
25%
Multiplex
25%
Neuromuscular Junction
25%
Peripheral Nerve
25%
Ptosis
25%
Skeletal muscle
25%
Skeletal Myofibers
25%
Terminal Branching
25%
Whole Genome Sequencing
25%
Medicine and Dentistry
Arthrogryposis
100%
Autosomal Recessive Inheritance
25%
Contractile Protein
25%
Contracture
75%
Disease
25%
Endothelin Converting Enzyme
100%
Facies
25%
Linkage Analysis
25%
Neuromuscular Junction
25%
Peripheral Nerve
25%
Proteinase
25%
Ptosis
25%
Skeletal Muscle
25%
Whole Genome Sequencing
25%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
25%
Contractile Protein
25%
Endopeptidase
25%
Endothelin
100%
Enzyme
100%
Linkage Analysis
25%
Motor Neuron
25%
Skeletal Muscle
25%
Whole Genome Sequencing
25%