Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations
BIOGRAFÍAS MÉDICAS ILUSTRADAS: DR. JEAN-PIERRE FRYNS
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
Pfeiffer syndrome
Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytopla
Historie | Klinische Genetica
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular. - ppt download
Fryns, JP
Prader-Willi syndrome in a child with mosaic analysis
Fryns, JP
NAGER TYPE OF ACROFACIAL DYSOSTOSIS: AN EXAMPLE OF AUTOSOMAL DOMINANT TRANSMISSION WITH VARIABLE EXPRESSION 1 The syndrome combi
Report Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size
FJHN - Genetic Linkage Analysis - Rockefeller University
Family Contexts, Parental Behaviour, and Personality Profiles of Children and Adolescents with Prader-Willi, Fragile-X, or Will