| | Title | Authors / Editors | Date |
|
unige:8741 |
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient |
Farah, R. A.; De Moerloose, Philippe; Bouchardy, Isabelle; Morris, Michael Andréw; ... Neerman Arbez, Marguerite |
2006 |
|
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:8775 |
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family |
Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos |
2001 |
|
unige:8771 |
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning |
Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
2000 |
|
unige:10848 |
Cloning of JAM-2 and JAM-3: an emerging junctional adhesion molecular family? |
Aurrand-Lions, Michel; Duncan, L.; Du Pasquier, L.; Imhof, Beat |
2000 |
|
unige:8681 |
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y |
Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
|
unige:7715 |
Mutational analysis of cysteine-string protein function in insulin exocytosis |
Zhang, H.; Kelley, William; Chamberlain, L. H.; Burgoyne, R. D.; Lang, Jochen |
1999 |
|
unige:8678 |
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 |
Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos |
1995 |
Membrane proteins/ genetics
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