| | Title | Authors / Editors | Date |
|
unige:20649 |
Affective response to a loved one's pain: insula activity as a function of individual differences |
Mazzola, Viridiana; Latorre, Valeria; Petito, Annamaria; Gentili, Nicoletta; ... Bondolfi, Guido |
2010 |
|
unige:8981 |
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree |
Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:89773 |
ANKRD26-related thrombocytopenia and myeloid malignancies |
Noris, Patrizia; Favier, Remi; Alessi, Marie-Christine; Geddis, Amy E; ... Balduini, Carlo L |
2013 |
|
unige:19602 |
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy |
Dunand, Murielle; Lobrinus, Johannes Alexander; Jeannet, Pierre-Yves; Behin, Anthony; ... Kuntzer, Thierry |
2009 |
|
unige:32726 |
Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family |
Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis |
2011 |
|
unige:45192 |
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? |
Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis |
2012 |
|
unige:20756 |
Evaluation of the overweight/obese child--practical tips for the primary health care provider: recommendations from the Childhood Obesity Task Force of the European Association for the Study of Obesity |
Baker, Jennifer L.; Farpour-Lambert, Nathalie; Nowicka, Paulina; Pietrobelli, Angelo; Weiss, Ram |
2010 |
|
unige:9146 |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations |
Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre |
2005 |
|
unige:8932 |
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells |
Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe |
2004 |
|
unige:9006 |
Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis |
Rubbia-Brandt, Laura; Neerman Arbez, Marguerite; Rougemont, A. L.; Male, P. J.; Spahr, Laurent |
2006 |
|
unige:45246 |
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease |
Lesage, Suzanne; Condroyer, Christel; Lohman, Ebba; Troiano, André; ... Brice, Alexis |
2010 |
|
unige:8974 |
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes |
Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. |
2000 |
|
unige:8754 |
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency |
Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite |
2005 |
|
unige:8900 |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis |
Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele |
2002 |
|
unige:8891 |
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity |
Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos |
1998 |
|
unige:25402 |
Médecine de l'adolescence. Le poids des adolescents: un poids pour la famille? |
Narring, Françoise; Chamay-Weber, Catherine; Shehu, Shqipe; Lanza, Lydia |
2011 |
|
unige:47047 |
Micro and macro population effects in disease transmission: the case of varicella |
Silhol, R.; Alvarez, F. P.; Arena, Christophe; Amoros, Jean Pierre; ... Boelle, Pierre-Yves |
2010 |
|
unige:48124 |
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis |
Hutter, Pierre; Rey-Berthod, C; Chappuis, Pierre; Couturier, A; ... Soravia, Claudio |
2001 |
|
unige:8638 |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness |
Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. |
2001 |
|
unige:19202 |
Obesity in long-term survivors of childhood acute lymphoblastic leukemia |
Asner, S.; Ammann, R. A.; Ozsahin, Ayse Hulya; Beck-Popovic, M.; von der Weid, N. X. |
2008 |
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