| | Title | Authors / Editors | Date |
|
unige:145465 |
RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities |
Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; ... Klee, Eric W |
2019 |
|
unige:146004 |
The spectrum of intermediate SCN8A-related epilepsy |
Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; ... Møller, Rikke S |
2019 |
|
unige:138454 |
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus |
Martin-Montalvo, Alejandro; López-Noriega, Livia; Jiménez-Moreno, Carmen; Herranz, Amanda; ... Gauthier, Benoit R |
2019 |
|
unige:128978 |
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries |
Collaboration |
2018 |
|
unige:128592 |
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families |
Fabre, Alexandre; Petit, Laëtitia Marie; Hansen, Lars F; Wewer, Anne V; ... Paerregaard, Anders |
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:96873 |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy |
Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed |
2016 |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
unige:95968 |
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy |
French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium |
2016 |
|
unige:102917 |
HLA-A-B-C-DRB1-DQB1 phased haplotypes in 124 Nigerian families indicate extreme HLA diversity and low linkage disequilibrium in Central-West Africa |
Testi, M; Battarra, M; Lucarelli, G; Isgro, A; ... Sanchez-Mazas, Alicia |
2015 |
|
unige:76382 |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy |
Korff, Christian |
2015 |
|
unige:95946 |
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers |
International Parkinson's Disease Genomics Consortium, UCL-exomes consortium |
2014 |
|
unige:77288 |
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report |
Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos |
2014 |
|
unige:90270 |
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 |
Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E |
2014 |
|
unige:102922 |
Haplotype diversity generated by ancient recombination-like events in the MHC of Indian rhesus macaques |
Doxiadis, Gaby G M; de Groot, Nanine; Otting, Nel; de Vos-Rouweler, Annemiek J M; ... Bontrop, Ronald E |
2013 |
|
unige:35211 |
Natural history of Barth syndrome: a national cohort study of 22 patients |
Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean |
2013 |
|
unige:37947 |
Mutations of DEPDC5 cause autosomal dominant focal epilepsies |
Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie |
2013 |
|
unige:35509 |
Two new families with hereditary minimal change disease |
Chehade, Hassib; Cachat, Francois; Girardin, Eric; Rotman, Samuel; ... Bonny, Olivier |
2013 |
|
unige:43412 |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders |
Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; ... Gleeson, Joseph G |
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 |
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