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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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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 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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Directional dominance on stature and cognition in diverse human populations Joshi, Peter K; Esko, Tonu; Polašek, Ozren; Wilson, James F. 2015
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Disentangling human tolerance and resistance against HIV. Regoes, Roland R; McLaren, Paul J; Battegay, Manuel; Bernasconi, Enos; ... Fellay, Jacques 2014
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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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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Lane, Jérôme; Boehlen, Françoise 2013
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Direct leptin action on POMC neurons regulates glucose homeostasis and hepatic insulin sensitivity in mice Berglund, Eric D; Vianna, Claudia R; Donato, Jose (Jr); Kim, Mi Hwa; ... Elmquist, Joel K 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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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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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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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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A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1 Dirlewanger, Mijam; Huser, Delphine; Zennaro, Maria-Christina; Girardin, Eric; ... Schwitzgebel Luscher, Valérie 2011
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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis 2011
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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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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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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Are parkin patients particularly suited for deep-brain stimulation? Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis 2008
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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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Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice Herbach, Nadja; Rathkolb, Birgit; Kemter, Elisabeth; Pichl, Lisa; ... Wanke, Ruediger 2007
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