| Title | Authors / Editors | Date |
unige:9001 |
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients |
Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos |
1998 |
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
unige:45219 |
A map of human genome variation from population-scale sequencing |
1000 Genomes Project Consortium |
2010 |
unige:19928 |
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 |
unige:11373 |
A novel class of secA alleles that exert a signal-sequence-dependent effect on protein export in Escherichia coli |
Khatib, Karim; Belin, Dominique |
2002 |
unige:8999 |
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 |
unige:45179 |
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms |
Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis |
2009 |
unige:9076 |
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 |
unige:8964 |
APECED: a monogenic autoimmune disease providing new clues to self-tolerance |
Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. |
1998 |
unige:89001 |
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 |
unige:19175 |
Are parkin patients particularly suited for deep-brain stimulation? |
Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis |
2008 |
unige:8725 |
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 |
unige:73117 |
ATM alterations in childhood non-Hodgkin lymphoma |
Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal |
2006 |
unige:47588 |
ATM gene alterations in childhood acute lymphoblastic leukemias |
Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David; Sappino, Pascal |
2003 |
unige:8625 |
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 |
unige:1797 |
Candidate gene analysis in three families with acilia syndrome |
Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. |
2008 |
unige:2538 |
Candidate genes for temporal lobe epilepsy: a replication study |
Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain |
2008 |
unige:9030 |
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 |
unige:74108 |
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 |
unige:8627 |
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 |