Show items per page
Elements: 116
Page 1 on 6
 TitleAuthors / EditorsDate
add to browser selection
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
add to browser selection
VPS35 mutations in Parkinson disease Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J 2011
add to browser selection
Two new families with hereditary minimal change disease Chehade, Hassib; Cachat, Francois; Girardin, Eric; Rotman, Samuel; ... Bonny, Olivier 2013
add to browser selection
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
add to browser selection
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Kern, Ilse 2011
add to browser selection
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André 2007
add to browser selection
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
add to browser selection
The molecular basis of inherited afibrinogenaemia Neerman Arbez, Marguerite 2001
add to browser selection
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
add to browser selection
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
add to browser selection
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
add to browser selection
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster Neerman Arbez, Marguerite; Antonarakis, Stylianos; Honsberger, A.; Morris, Michael Andréw 1999
add to browser selection
Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22 Savioz, Armand; Riederer, Beat M; Heutink, Peter; Rizzu, Patrizia; ... Leuba, Geneviève 2003
add to browser selection
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5 Wider, C.; Melquist, S.; Hauf, M.; Solida, A.; ... Vingerhoets, François 2008
add to browser selection
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
add to browser selection
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
add to browser selection
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
add to browser selection
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia Marelli, Cecilia; van de Leemput, Joyce; Johnson, Janel O; Tison, Francois; ... Brice, Alexis 2011
add to browser selection
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
add to browser selection
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
<< previous | 1 | 2 | 3 | 4 | 5 | 6 |