| Title | Authors / Editors | Date |
unige:84812 |
The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes |
Bruneau, Sylvia; Johnson, Kenneth R.; Yamamoto, Masakazu; Kuroiwa, Atsushi; Duboule, Denis |
2001 |
unige:9872 |
The dose of a putative ubiquitin-specific protease affects position-effect variegation in Drosophila melanogaster |
Henchoz, Sandra; De Rubertis, Francesco; Pauli, Daniel; Spierer, Pierre |
1996 |
unige:43387 |
The DBP gene is expressed according to a circadian rhythm in the suprachiasmatic nucleus and influences circadian behavior |
Lopez Molina, Luis; Conquet, F; Dubois-Dauphin, Michel; Schibler, Ulrich |
1997 |
unige:10076 |
The CRF neurosecretory vesicle: vasopressin-dependent changes in vesicle size after adrenalectomy |
Kiss, Jozsef Zoltan; Bertini, L. T. |
1992 |
unige:8705 |
Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain |
De Moerloose, Philippe; Germanos-Haddad, Myrna; Boehlen, Françoise; Neerman Arbez, Marguerite |
2004 |
unige:36659 |
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function |
Marthinet, Eric; Bloc, Alain André Leon; Oka, Yoshimoto; Tanizawa, Yukio; ... Schwitzgebel Luscher, Valérie |
2005 |
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:34648 |
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 |
unige:8930 |
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia |
Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw |
2000 |
unige:32312 |
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia |
Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite |
2012 |
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:108546 |
Impact of CD14 Polymorphisms on Anti-Apolipoprotein A-1 IgG-Related Coronary Artery Disease Prediction in the General Population |
Antiochos, Panagiotis; Marques-Vidal, Pedro; Virzi, Julien; Pagano, Sabrina; ... Vuilleumier, Nicolas |
2017 |
unige:34656 |
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? |
Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand |
2012 |
unige:8754 |
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency |
Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite |
2005 |
unige:2096 |
HLA-Bw4 homozygosity is associated with an impaired CD4 T cell recovery after initiation of antiretroviral therapy |
Rauch, Andri; Nolan, David; Furrer, Hansjakob; McKinnon, Elizabeth; ... James, Ian |
2008 |
unige:29051 |
Haplotype-based banking of human pluripotent stem cells for transplantation: potential and limitations |
Zimmermann, Anna; Preynat-Seauve, Olivier; Tiercy, Jean-Marie; Krause, Karl-Heinz; Villard, Jean |
2012 |
unige:11523 |
Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319 |
Prella, M.; Baccala, R.; Horisberger, J. D.; Belin, Dominique; ... Schapira, Marc |
2001 |
unige:20997 |
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome |
Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre |
2010 |
unige:34640 |
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity |
Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos |
2013 |
unige:9146 |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations |
Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre |
2005 |