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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M; Labalme, Audrey; ... Szepetowski, Pierre 2016
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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
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; ... Lemke, Johannes R 2015
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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
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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
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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers International Parkinson's Disease Genomics Consortium, UCL-exomes consortium 2014
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 2013
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Two new families with hereditary minimal change disease Chehade, Hassib; Cachat, Francois; Girardin, Eric; Rotman, Samuel; ... Bonny, Olivier 2013
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Natural history of Barth syndrome: a national cohort study of 22 patients Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean 2013
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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
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman-Arbez, Marguerite 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman-Arbez, Marguerite; De Moerloose, Philippe 2012
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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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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos 2012
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Davis, Erica E; Zhang, Qi; Liu, Qin; Diplas, Bill H; ... Katsanis, Nicholas 2011
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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VPS35 mutations in Parkinson disease Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J 2011
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