ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION. [electronic resource]
Producer: 20181016Description: 305-323 p. digitalISSN:- 1015-8146
- Acetyltransferases -- genetics
- Centromere -- genetics
- Child, Preschool
- Chromosomal Proteins, Non-Histone -- genetics
- Chromosome Aberrations
- Consanguinity
- Craniofacial Abnormalities -- diagnosis
- Cytogenetic Analysis
- DNA Mutational Analysis
- Ectromelia -- diagnosis
- Egypt
- Exons -- genetics
- Female
- Genes, Recessive -- genetics
- Genotype
- Humans
- Hypertelorism -- diagnosis
- In Situ Hybridization, Fluorescence
- Infant
- Limb Deformities, Congenital -- genetics
- Male
- Phenotype
- Polymerase Chain Reaction
- Statistics as Topic
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Publication Type: Journal Article
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