Resultados da pesquisa - JP Fryns
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1
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) Por Nicole Maas, Griet Van Buggenhout, Femke Hannes, Bernard Thienpont, Damien Sanlaville, Klaas Kok, Alina T. Midro, Joris Andrieux, B-M Anderlid, Jacqueline Schoumans, Roel Hordijk, Koenraad Devriendt, JP Fryns, Joris Vermeesch
Publicado em 2007Artigo -
2
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant Por Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch
Publicado em 2008Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Chromosome
Comparative genomic hybridization
Gene
Genetics
Microcephaly
Breakpoint
Chromosomal inversion
Copy-number variation
Craniofacial
Environmental health
Gene duplication
Gene family
Genetic recombination
Genome
Genotype-phenotype distinction
Hypospadias
Karyotype
Medicine
Non-allelic homologous recombination
Phenotype
Population
Recombination
Segmental duplication