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Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
snoRNA-facilitated protein secretion revealed by transcriptome-wide snoRNA target identification.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Evaluation of computer-aided diagnosis (CAD) software for the detection of lung nodules on multidetector row computed tomography (MDCT): JAFROC study for the improvement in radiologists' diagnostic accuracy.
Further comments on the lissencephaly syndromes.
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Further comments on the lissencephaly syndromes.
Further comments on the lissencephaly syndromes. Am J Med Genet. 1985 Sep; 22(1):197-211.
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PubMed
subject areas
Abnormalities, Multiple
Brain
Face
Female
Genetic Counseling
Humans
Infant
Organ Size
Risk
Syndrome
authors with profiles
William B. Dobyns