Esther Vamos

Delineation of two distinct 6p deletion syndromes

Angela Davies, Ghazala Mirza, Gurbax S. Sekhon et al. · Human Genetics · 1999 · 113 citations

Down Syndrome, Mendelian Disorder, Genetic Disorder +5

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

Winnie Courtens, Dominique Grossman, Nadine Van Roy et al. · Human Genetics · 1998 · 94 citations

Developmental Biology, Maternal Paracentric Inversion, Cytogenetics +10

Alveolar soft-part sarcoma: Further evidence by FISH for the involvement of chromosome band 17q25

Pierre Heimann, Christine Devalck, C. Debusscher et al. · Genes Chromosomes and Cancer · 1998 · 91 citations

Chromatin, Gene Fusion, Derivative Chromosome 17 +12

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren et al. · The American Journal of Human Genetics · 2005 · 87 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis

Linda De Meırleır, Willy Lissens, Robert Denis et al. · Pediatric Neurology · 1993 · 67 citations

Metabolic Disorder, Pyruvate Dehydrogenase Deficiency, Biochemistry +5