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High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
By:
- Thomas, Sophie;
- Encha-Razavi, Ferechté;
- Devisme, Louise;
- Etchevers, Heather;
- Bessieres-Grattagliano, Bettina;
- Goudefroye, Géraldine;
- Elkhartoufi, Nadia;
- Pateau, Emilie;
- Ichkou, Amale;
- Bonnière, Maryse;
- Marcorelle, Pascale;
- Parent, Philippe;
- Manouvrier, Sylvie;
- Holder, Muriel;
- Laquerrière, Annie;
- Loeuillet, Laurence;
- Roume, Joelle;
- Martinovic, Jelena;
- Mougou-Zerelli, Soumaya;
- Gonzales, Marie
Publication type:
Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Published in:
Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
By:
- Valence, Stéphanie;
- Poirier, Karine;
- Lebrun, Nicolas;
- Saillour, Yoann;
- Sonigo, Pascale;
- Bessières, Bettina;
- Attié-Bitach, Tania;
- Benachi, Alexandra;
- Masson, Cécile;
- Encha-Razavi, Ferechté;
- Chelly, Jamel;
- Bahi-Buisson, Nadia
Publication type:
Article