P. Sardá

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase

Judith Luciani, D. Depétris, Yves Usson et al. · Journal of Cell Science · 2006 · 128 citations

Life Sciences, Cell Biology, Molecular Biology +16

Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting

T. Anahory, S. Hamamah, B. Andréo et al. · Human Reproduction · 2005 · 97 citations

Life Sciences, Genetics, Molecular Genetics +13

Incidence of Type 1 (insulin-dependent) diabetes mellitus in Catalonia, Spain

Albert Goday, Conxa Castell, Ricard Tresserras et al. · Diabetologia · 1992 · 75 citations · Full text

Medicine, Endocrinology, Health Sciences +4

Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

Nathalie Dagoneau, Samuel Bellais, Patricia Blanchet et al. · The American Journal of Human Genetics · 2007 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16