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History (42)
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Discrimination of spatial displacements by patients with retinitis pigmentosa.
Differential expression and signaling of CBL and CBL-B in BCR/ABL transformed cells.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
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