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 TitleAuthors / EditorsDate
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Skipper, Kristian A; ... Mogensen, Trine H 2017
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; ... Lemke, Johannes R 2017
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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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Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency Ciancanelli, Michael J; Huang, Sarah X L; Luthra, Priya; Garner, Hannah; ... Casanova, Jean-Laurent 2015
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome Rivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; ... MacArthur, Daniel G. 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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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 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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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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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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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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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Jacquemont, Sébastien 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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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 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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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
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