Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nicolas Simonis"'
Autor:
Boyan Dimitrov, Georges Casimir, Geert Mortier, Guy Van Vliet, Camille Perazzolo, Sandra Janssens, Claudine Heinrichs, Isabelle Migeotte, Philippe Lepage, Marc Abramowicz, Deepthi De Silva, Nelle Lambert, Bronwyn Kerr, Catheline Vilain, Guillaume Smits, Nicolas Simonis
Publikováno v:
Journal of Medical Genetics
Journal of medical genetics, 50 (9
Journal of medical genetics
Journal of medical genetics, 50 (9
Journal of medical genetics
Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of
Autor:
Isabelle Pirson, Orly Elpeleg, Anais Drielsma, Nicolas Simonis, Marc Abramowicz, Simon Edvardson, Natalia Simanovsky, Julie Désir, Chaim Jalas
Publikováno v:
Journal of medical genetics, 49 (11
Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of cases are not secondary to a specific cause (eg, a neural tube defect), and within this subgroup, autosomal recessive inheritance has been described. One
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f7d56a677acf1f86f1985c0c8d0242
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/136680
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/136680
Autor:
Nicolas Simonis, Fran�ois Charles Wang, Massimo Pandolfo, Mario Manto, Simona Donatello, Chantal Depondt, Myriam Rai
Publikováno v:
Neurology: Genetics, 2 (5
Neurology: Genetics
Neurology: Genetics
Objective: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. Methods: We collected DNA samples of 28 fami