| | Title | Authors / Editors | Date |
|
unige:127123 |
NBEA: Developmental disease gene with early generalized epilepsy phenotypes |
Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; ... Sands, Tristan T |
2018 |
|
unige:123733 |
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother |
Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane |
2018 |
|
unige:111047 |
Maternal eating disorders affect offspring cord blood DNA methylation: a prospective study |
Kazmi, Nabila; Gaunt, Tom R; Relton, Caroline; Micali, Nadia |
2017 |
|
unige:127255 |
Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans |
Franceschini, Nora; Carty, Cara L; Lu, Yingchang; Tao, Ran; ... Kooperberg, Charles |
2016 |
|
unige:86827 |
Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex |
Telley, Ludovic; Govindan, Subashika; Prados, Julien; Stevant, Isabelle; ... Jabaudon, Denis |
2016 |
|
unige:138413 |
Sleep Physiology Alterations Precede Plethoric Phenotypic Changes in R6/1 Huntington's Disease Mice |
Lebreton, Fanny; Cayzac, Sebastien; Pietropaolo, Susanna; Jeantet, Yannick; Cho, Yoon H |
2015 |
|
unige:55188 |
Towards the identification of a genetic basis for Landau-Kleffner syndrome |
Conroy, Judith; McGettigan, Paul A; McCreary, Dara; Shah, Naisha; ... King, Mary D |
2014 |
|
unige:73759 |
Novel maculopathy in patients with spinocerebellar ataxia type 1 autofluorescence findings and functional characteristics |
Vaclavik, Veronika; Borruat, François-Xavier; Ambresin, Aude; Munier, Francis L |
2013 |
|
unige:34630 |
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature |
Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline |
2013 |
|
unige:32814 |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population |
Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel |
2012 |
|
unige:30601 |
Discrepancies in reporting the CAG repeat lengths for Huntington's disease |
Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; ... Landwehrmeyer, G Bernhard |
2012 |
|
unige:25118 |
Fgf9 signalling stimulates Spred and Sprouty expression in embryonic mouse pancreas mesenchyme |
Sylvestersen, Kathrine B; Herrera, Pedro Luis; Serup, Palle; Rescan, Claude |
2011 |
|
unige:25698 |
Replication of association between a SCN1A splice variant and febrile seizures |
Le Gal, François; Salzmann, Annick; Crespel, Arielle; Malafosse, Alain |
2011 |
|
unige:19885 |
Pax6 regulates the proglucagon processing enzyme PC2 and its chaperone 7B2 |
Katz, Liora; Gosmain, Yvan; Marthinet, Eric; Philippe, Jacques |
2009 |
|
unige:20054 |
A genome-wide association study of testicular germ cell tumor |
Rapley, Elizabeth A.; Turnbull, Clare; Al Olama, Ali Amin; Dermitzakis, Emmanouil; ... Stratton, Michael R. |
2009 |
|
unige:44941 |
Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease |
Assal, Frédéric; Alarcón, Maricela; Solomon, Esther C; Masterman, Donna; ... Cummings, Jeffrey L |
2004 |
|
unige:73868 |
beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. |
Horikawa, Yohko; Horikawa, Yukio; Cox, Nancy J.; Iwasaki, Naoko; ... Bell, Graeme I. |
2000 |
|
unige:35649 |
Ca2+-independent insulin exocytosis induced by alpha-latrotoxin requires latrophilin, a G protein-coupled receptor |
Lang, Jochen; Ushkaryov, Y; Grasso, A; Wollheim, Claes |
1998 |
Nerve tissue proteins/genetics
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