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Using single cell RNA-seq to study regulatory noise and robustness
CXCR4 signaling directs Igk recombination and the molecular mechanisms of late B lymphopoiesis.
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Causal heterogeneity in isolated lissencephaly.
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003 Nov; 40(11):845-8.
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PubMed
subject areas
Brain
Codon, Nonsense
Eye Abnormalities
Female
Humans
Infant
Male
Membrane Proteins
Muscular Dystrophies
Pedigree
Phenotype
Proteins
Syndrome
authors with profiles
William B. Dobyns