L Larget-Piet

[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

M O Rethoré, L Larget-Piet, D Abonyi et al. · PubMed · 1970 · 70 citations

Short Arm, Cytogenetics, Genetic Disorder +7

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

A. Taillandier, Anne-Sophie Lia-Baldini, M. Mouchard et al. · Human Mutation · 2001 · 60 citations · Full text

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Catherine L�pinard, Philippe Descamps, Guerrino Meneguzzi et al. · Prenatal Diagnosis · 2000 · 48 citations

Developmental Anomaly, Medicine, Ear Molding +11

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Josseline Kaplan, Anna Pelet, Cindy M. Martin et al. · Journal of Medical Genetics · 1992 · 33 citations · Full text

Retina, Ophthalmology, Genetic Disorder +11

The Gene for Spondyloepiphyseal Dysplasia (SEDL) Maps to Xp22 between DXS16 and DXS92

S. Heuertz, Marcel Nelen, Andrew O.M. Wilkie et al. · Genomics · 1993 · 26 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8