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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010
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A multidisciplinary study of patients with early-onset PD with and without parkin mutations Lohmann, E.; Thobois, S.; Lesage, S.; Broussolle, E.; ... Brice, A. 2009
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A novel class of secA alleles that exert a signal-sequence-dependent effect on protein export in Escherichia coli Khatib, Karim; Belin, Dominique 2002
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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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Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis 2009
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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard 1997
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APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich 2016
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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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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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ATM alterations in childhood non-Hodgkin lymphoma Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal 2006
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ATM gene alterations in childhood acute lymphoblastic leukemias Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David; Sappino, Pascal 2003
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
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Candidate genes for temporal lobe epilepsy: a replication study Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain 2008
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Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos 1998
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Characterization of Streptococcus tigurinus small-colony variants causing prosthetic joint infection by comparative whole-genome analyses Zbinden, Andrea; Quiblier, Chantal; Hernandez, David; Herzog, Kathrin; ... Francois, Patrice 2014
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Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos 2000
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