Advanced search

Show items per page
Elements: 35
Page 1 on 2
 TitleAuthors / EditorsDate
add to browser selection
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations Moysés-Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard; Rosenfeld, Jill A; ... Reymond, Alexandre 2018
add to browser selection
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis van der Zee, Julie; Gijselinck, Ilse 2017
add to browser selection
Annotation of functional impact of voltage-gated sodium channel mutations Hinard, Valérie; Britan, Aurore; Schaeffer, Mathieu; Zahn, Monique; ... Gaudet, Pascale 2017
add to browser selection
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Böhm, Johann; Bulla, Monica; Urquhart, Jill E; Malfatti, Edoardo; ... Laporte, Jocelyn 2017
add to browser selection
HGVS Recommendations for the Description of Sequence Variants: 2016 Update den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M 2016
add to browser selection
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos 2014
add to browser selection
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
add to browser selection
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
add to browser selection
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities Mittag, Florian; Büchel, Finja; Saad, Mohamad; Jahn, Andreas; ... Sharma, Manu 2012
add to browser selection
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard 2011
add to browser selection
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
add to browser selection
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation Bedard, Karen; Attar Cohen, Homa; Bonnefont, Jérôme; Jaquet, Vincent; ... Krause, Karl-Heinz 2009
add to browser selection
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss Guipponi, Michel; Toh, Min-Yen; Tan, Justin; Park, Daeho; ... Scott, Hamish Steele 2008
add to browser selection
Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase Yip Sonderegger, Yum Lina; Famiglietti Michel, Maria Liva; Gos, Arnaud; Duek, Paula Debora; ... Bairoch, Amos Marc 2008
add to browser selection
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
add to browser selection
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
add to browser selection
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease de Pontual, L.; Pelet, A.; Clement-Ziza, M.; Trochet, D.; ... Amiel, J. 2007
add to browser selection
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
add to browser selection
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos 2005
add to browser selection
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
<< previous | 1 | 2 |