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History (19)
Growth of an intrapelvic pseudotumor associated with a metal-on-metal total hip arthroplasty after revision arthroplasty causing a femoral nerve neuropathy.
Zero-shot Interpretable Phenotyping of Postpartum Hemorrhage Using Large Language Models.
An exponential increase in QTL detection with an increased sample size.
Transmission image reconstruction and redundant information in SPECT with asymmetric fan-beam collimation
Identification of the nonreceptor tyrosine kinase MATK/CHK as an essential regulator of immune cells using Matk/CHK-deficient mice.
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Dobyns, William
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Dobyns, William
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Concept
Cytoskeletal Proteins
Academic Article
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article
Expanding CEP290 mutational spectrum in ciliopathies.
Academic Article
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Academic Article
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Academic Article
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Academic Article
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Academic Article
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
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Cytoskeletal Proteins