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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Reasons for nonadherence to guidelines for aortic valve replacement in patients with severe aortic stenosis and potential solutions.
A developmental and genetic classification for malformations of cortical development: update 2012.
A missing data approach to semi-competing risks problems.
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
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PubMed
subject areas
Abnormalities, Multiple
Brain
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, 16-18
Facial Expression
Female
Genes, Recessive
Growth Disorders
Humans
Infant
Karyotyping
Male
Phenotype
Prenatal Diagnosis
Syndrome
Translocation, Genetic
authors with profiles
William B. Dobyns