| | Title | Authors / Editors | Date |
|
unige:128602 |
Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition |
Socha, Piotr; Janczyk, Wojciech; Dhawan, Anil; Baumann, Ulrich; ... Debray, Dominique |
2018 |
|
unige:8879 |
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls |
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos |
2009 |
|
unige:32729 |
Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. |
Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta |
2011 |
|
unige:9202 |
Transient translational silencing by reversible mRNA deadenylation |
Huarte, Joachim; Stutz, A.; O'Connell, M. L.; Gubler, P.; ... Vassalli, Jean-Dominique |
1992 |
|
unige:37149 |
Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study |
Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid |
2013 |
|
unige:1279 |
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness |
Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele |
2008 |
|
unige:8776 |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro |
Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. |
2002 |
|
unige:130902 |
The rat hepatic leukemia factor (HLF) gene encodes two transcriptional activators with distinct circadian rhythms, tissue distributions and target preferences |
Falvey, Eileen Elisabeth; Fleury Olela, Fabienne; Schibler, Ulrich |
1995 |
|
unige:8979 |
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations |
Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos |
1999 |
|
unige:8976 |
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region |
Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos |
1997 |
|
unige:114066 |
The CST3 B haplotype is associated with frontotemporal lobar degeneration |
Benussi, L; Ghidoni, R; Galimberti, D; Boccardi, Marina; ... Binetti, G |
2010 |
|
unige:11651 |
Telomere length is not predictive of dementia or MCI conversion in the oldest old |
Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz |
2010 |
|
unige:9000 |
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) |
Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
|
unige:17544 |
Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP |
Selenko, Philipp; Gregorovic, Goran; Sprangers, Remco; Stier, Gunter; ... Sattler, Michael |
2003 |
|
unige:1031 |
Spontaneous rupture of a gastrointestinal stromal tumour associated with life-threatening nontraumatic hemoperitoneum |
Bucher, Pascal; Poletti, Pierre Alexandre; Myit, Samir; Morel, Philippe |
2008 |
|
unige:5480 |
Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation |
Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite |
2009 |
|
unige:26601 |
Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia |
Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G |
2000 |
|
unige:7268 |
Scanning mutagenesis identifies amino acid residues essential for the in vivo activity of the Escherichia coli DnaJ (Hsp40) J-domain |
Genevaux, Pierre; Schwager, Françoise; Georgopoulos, Costa Panos; Kelley, William |
2002 |
|
unige:143398 |
Rous Sarcoma Virus Expression in Saccharomyces cerevisiae: Processing and Membrane Targeting of the gag Gene Product |
Bonnet, Daniel André Paul; Spahr, Pierre-François |
1990 |
|
unige:20618 |
Rhinovirus genome evolution during experimental human infection |
Cordey, Samuel; Junier, Thomas; Gerlach, Daniel; Gobbini, Francesca; ... Kaiser, Laurent |
2010 |
Dna mutational analysis
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