| Title | Authors / Editors | Date |
unige:149590 |
Role of HLA-B exon 1 in graft-versus-host disease after unrelated haemopoietic cell transplantation: a retrospective cohort study |
Petersdorf, Effie W; Carrington, Mary; O'hUigin, Colm; Bengtsson, Mats; ... Stevenson, Phil |
2020 |
unige:34328 |
Transcriptome and genome sequencing uncovers functional variation in humans |
Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil |
2013 |
unige:34643 |
Landscape of transcription in human cells |
Djebali, Sarah; Davis, Carrie A |
2012 |
unige:37818 |
An integrated encyclopedia of DNA elements in the human genome |
ENCODE Project Consortium |
2012 |
unige:45235 |
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study |
Ross, Owen A |
2011 |
unige:25383 |
A novel exon 3 mutation in a Tunisian patient with Lafora's disease |
Khiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A |
2011 |
unige:21243 |
Marked hemiatrophy in carriers of Duchenne muscular dystrophy |
Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. |
2010 |
unige:19684 |
Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature |
Black, William J.; Stagos, Dimitrios; Marchitti, Satori A.; Nebert, Daniel W.; ... Vasiliou, Vasilis |
2009 |
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:9051 |
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia |
Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis |
2009 |
unige:2415 |
A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77 |
Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie |
2008 |
unige:9143 |
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project |
Birney, Ewan |
2007 |
unige:6796 |
ATAB2 is a novel factor in the signalling pathway of light-controlled synthesis of photosystem proteins |
Barneche, Frédy; Winter, Veronika; Crèvecoeur, Michèle; Rochaix, Jean-David |
2006 |
unige:9093 |
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro |
Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos |
2005 |
unige:8717 |
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment |
Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos |
2004 |
unige:8887 |
Association of the connexin36 gene with juvenile myoclonic epilepsy |
Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo |
2004 |
unige:8618 |
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA) |
Attanasio, Catia; David, Armelle; Neerman Arbez, Marguerite |
2003 |
unige:9079 |
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion |
Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite |
2003 |
unige:9092 |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients |
Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos |
2002 |
unige:8594 |
Isolation and initial characterization of the mouse Dnmt3l gene |
Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P. |
2001 |