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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
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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
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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
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The CRF neurosecretory vesicle: vasopressin-dependent changes in vesicle size after adrenalectomy Kiss, Jozsef Zoltan; Bertini, L. T. 1992
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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
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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
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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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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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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
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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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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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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
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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
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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
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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
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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
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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
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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
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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
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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