Concepedia
Nature Genetics · 2000 · 270 citations · 14 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsGenetic DisordersGenetic SyndromesMendelian DisordersReceptor Tyrosine Kinase SignalingMapk Pathway Mutations
14
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text
Medicine, Genetics, Pediatrics +9
The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome
Jane S. Green, P S Parfrey, J D Harnett et al. · New England Journal of Medicine · 1989 · 556 citations
Medicine, Endocrinology, Ophthalmology +12
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
Val C. Sheffield, Rivka Carml, Anne Kwltek-Black et al. · Human Molecular Genetics · 1994 · 216 citations
Life Sciences, Genetics, Molecular Genetics +17
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
Deborah L. Stone, Anne Slavotinek, Gerard G. Bouffard et al. · Nature Genetics · 2000 · 201 citations
Life Sciences, Genetics, Molecular Genetics +10
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Rivka Carmi, Tatiana Rokhlina, Anne E. Kwitek et al. · Human Molecular Genetics · 1995 · 182 citations