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Stem cells, growth factors and scaffolds in craniofacial regenerative medicine.
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Genetic links between brain development and brain evolution.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
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PubMed
subject areas
Abnormalities, Multiple
Agenesis of Corpus Callosum
Cells, Cultured
Corpus Callosum
DNA Mutational Analysis
Female
Gene Expression Regulation
Genetic Linkage
Genitalia, Female
Genitalia, Male
Genotype
Homeodomain Proteins
Humans
Infant, Newborn
Lymphocytes
Magnetic Resonance Imaging
Male
Mutation
Mutation, Missense
Pedigree
Phenotype
Sex Chromosome Disorders
Transcription Factors
authors with profiles
Soma Das
William B. Dobyns