1.
Genet Couns
; 26(1): 91-4, 2015.
Article
in English
| MEDLINE
| ID: mdl-26043515
2.
Clin Genet
; 87(2): 192-5, 2015 Feb.
Article
in English
| MEDLINE
| ID: mdl-24702266
Subject(s)
Atrophy/genetics , Homeodomain Proteins/genetics , Macular Degeneration/genetics , Optic Nerve Diseases/genetics , Trans-Activators/genetics , Adolescent , Atrophy/pathology , Cell Differentiation/genetics , Child , Child, Preschool , Female , Homozygote , Humans , Macular Degeneration/pathology , Male , Mutation , Optic Nerve Diseases/pathology , Retinal Ganglion Cells/pathology
3.
Genet Couns
; 25(3): 331-5, 2014.
Article
in English
| MEDLINE
| ID: mdl-25365856
Subject(s)
DNA Mutational Analysis , Hyperparathyroidism, Primary/genetics , Infant, Newborn, Diseases/genetics , Receptors, Calcium-Sensing/genetics , Calcium/blood , Chromosome Aberrations , Consanguinity , Genes, Dominant/genetics , Genetic Carrier Screening , Homozygote , Humans , Hyperparathyroidism, Primary/diagnosis , Infant , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Male , Parathyroid Hormone/blood , Point Mutation/genetics
4.
Clin Exp Dermatol
; 32(2): 235-6, 2007 Mar.
Article
in English
| MEDLINE
| ID: mdl-17342804