V Der Kaloustian
Montreal Children's Hospital(CA)McGill University(CA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Hearing, Cochlea, Tinnitus, Genetics, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Chromosomal and Genetic Variations
Most-Cited Works
- → Mutations in GJB6 cause hidrotic ectodermal dysplasia(2000)287 cited
- → An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.(1988)104 cited
- → The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis(1987)99 cited
- → Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity(2006)77 cited
- → Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products(1998)57 cited
- → A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22(1997)37 cited
- → Mutation analysis of the tumor suppressorPTENand the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome(2004)35 cited
- → Waardenburg's recessive anophthalmia syndrome(1984)21 cited
- → MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME(2006)17 cited