Výsledky vyhledávání - "Edwin Verlind"

X-linked hydrocephalus: a novel missense mutation in the L1CAM gene

Autor: Johan G. Johansen, László Sztriha, Edwin Verlind, Yvonne J. Vos, Bertel Berg

Publikováno v: Pediatric neurology, 27(4):PII S0887-8994(02)00440-X, 293-296. ELSEVIER SCIENCE INC

X-linked hydrocephalus is associated with mutations in the L1 neuronal cell adhesion molecule gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. A male is described w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50dd684bb97346787e0c573b90dd2b7
https://doi.org/10.1016/s0887-8994(02)00440-x

Zobrazit plný text záznamu

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #304 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/304.pdf

Autor: Jan Peter Rake, Annelies M. ten Berge, Gepke Visser, Edwin Verlind, Klary E. Niezen-Koning, Charles H.C.M. Buys, G. Peter A. Smit, Hans Scheffer

Publikováno v: Human Mutation. 15:381

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a105506b282df6039c0751a9b77f2493
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.3.co

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání