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Results 1 to 25 of 10661

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On the allelic spectrum of human diseaseREICH, David E; LANDER, Eric S.Trends in genetics (Regular ed.). 2001, Vol 17, Num 9, pp 502-510, issn 0168-9525Article

How many lethal alleles?HALLIGAN, Daniel L; KEIGHTLEY, Peter D.Trends in genetics (Regular ed.). 2003, Vol 19, Num 2, pp 57-59, issn 0168-9525, 3 p.Article

Standardized SSR allele naming and binning among projectsDEEMER, Dennis L; DANA NELSON, C.BioTechniques. 2010, Vol 49, Num 5, pp 835-836, issn 0736-6205, 2 p.Article

Counting alleles reveals a connection between chromosome 18q loss and vascular invasionWEI ZHOU; GALIZIA, Gennaro; GOODMAN, Steven N et al.Nature biotechnology. 2001, Vol 19, Num 1, pp 78-81, issn 1087-0156Article

Estimating the proportion of neutral mutantsWATTERSON, G. A.Genetical research. 1987, Vol 50, Num 2, pp 155-163, issn 0016-6723Article

Most rare missense alleles are deleterious in humans : Implications for complex disease and association studiesKRYUKOV, Gregory V; PENNACCHIO, Len A; SUNYAEV, Shamil R et al.American journal of human genetics. 2007, Vol 80, Num 4, pp 727-739, issn 0002-9297, 13 p.Article

Clonal allelic predetermination of immunoglobulin―κ rearrangementFARAGO, Marganit; ROSENBLUH, Chaggai; HANNA, Jacob H et al.Nature (London). 2012, Vol 490, Num 7421, pp 561-565, issn 0028-0836, 5 p.Article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumDAVIS, Erica E; QI ZHANG; MUZNY, Donna M et al.Nature genetics. 2011, Vol 43, Num 3, pp 189-196, issn 1061-4036, 8 p.Article

Properties of the transmission-disequilibrium test in the presence of inbreedingGENIN, Emmanuelle; TODOROV, Alexandre A; CLERGET-DARPOUX, Francoise et al.Genetic epidemiology. 2002, Vol 22, Num 2, pp 116-127, issn 0741-0395Article

Identification of a null allele of CYP2C9 in an African-American exhibiting toxicity to phenytoinKIDD, Robert S; CURRY, Timothy B; GALLAGHER, Susan et al.Pharmacogenetics (London). 2001, Vol 11, Num 9, pp 803-808, issn 0960-314XArticle

Extensive allelic variation and ultrashort telomeres in senescent human cellsBAIRD, Duncan M; ROWSON, Jan; WYNFORD-THOMAS, David et al.Nature genetics. 2003, Vol 33, Num 2, pp 203-207, issn 1061-4036, 5 p.Article

Genome-wide allele-specific analysis: insights into regulatory variationPASTINEN, Tomi.Nature reviews. Genetics (Print). 2010, Vol 11, Num 8, pp 533-538, issn 1471-0056, 6 p.Article

ADZE : a rarefaction approach for counting alleles private to combinations of populationsSZPIECH, Zachary A; JAKOBSSON, Mattias; ROSENBERG, Noah A et al.Bioinformatics (Oxford. Print). 2008, Vol 24, Num 21, pp 2498-2504, issn 1367-4803, 7 p.Article

Haemodynamic characterization of young normotensive men carrying the 825T-allele of the G-protein β3 subunitSCHÄFERS, Rafael F; NÜRNBERGER, Lens; RÜTZ, Angelika et al.Pharmacogenetics (London). 2001, Vol 11, Num 6, pp 461-470, issn 0960-314XArticle

Identification of a novel Kmod-1 allele encoded by 977C>T (Pro326Leu)POLIN, Helene; GASZNER, Waltraud; SUESSNER, Susanne et al.Transfusion (Philadelphia, PA). 2014, Vol 54, Num 8, pp 2130-2131, issn 0041-1132, 2 p.Article

Allelic spectrum of the natural variation in CRPCRAWFORD, Dana C; QIAN YI; SMITH, Joshua D et al.Human genetics. 2006, Vol 119, Num 5, pp 496-504, issn 0340-6717, 9 p.Article

Expression of recombinant β-tubulin alleles from Cylicocyclus nassatus (Cyathostominae)BLACKHALL, William J; DROGEMULLER, Michaela; SCHNIEDER, Thomas et al.Parasitology research (1987). 2006, Vol 99, Num 6, pp 687-693, issn 0932-0113, 7 p.Article

Molecular background of novel silent RHCE alleles : Twenty Years since the Cloning of the Blood Group GenesPHAM, Bach-Nga; RAMELET, Stéphanie; WIBAUT, Bénédicte et al.Transfusion (Philadelphia, PA). 2013, Vol 53, Num 11, pp 2990-2999, issn 0041-1132, 10 p., 2Article

Occurrence of puroindoline alleles in Chinese winter wheatsLANQIN XIA; FENG CHEN; ZHONGHU HE et al.Cereal chemistry. 2005, Vol 82, Num 1, pp 38-43, issn 0009-0352, 6 p.Article

A Functional ABCC11 Allele Is Essential in the Biochemical Formation of Human Axillary OdorMARTIN, Annette; SAATHOFF, Matthias; KUHN, Fabian et al.Journal of investigative dermatology. 2010, Vol 130, Num 2, pp 529-540, issn 0022-202X, 12 p.Article

Apparent bias for P. falciparum parasites carrying the wild-type pfcrt allele in the placentaOSTER, Nadja; ROHRBACH, Petra; SANCHEZ, Cecilia P et al.Parasitology research (1987). 2010, Vol 106, Num 5, pp 1065-1070, issn 0932-0113, 6 p.Article

Global patterns of cis variation in human cells revealed by high-density allelic expression analysisBING GE; POKHOLOK, Dmitry K; DIAS, Joana et al.Nature genetics. 2009, Vol 41, Num 11, pp 1216-1222, issn 1061-4036, 7 p.Article

Rare allele enrichment an detection by allele-specific PCR, competitive probe blocking, and melting analysisLUMING ZHOU; YING WANG; WITTWER, Carl T et al.BioTechniques. 2011, Vol 50, Num 5, issn 0736-6205, 311-318 [4 p.]Article

The JR blood group system: identification of alleles that alter expressionHUE-ROYE, Kim; ZELINSKI, Teresa; COBAUGH, Adam et al.Transfusion (Philadelphia, PA). 2013, Vol 53, Num 11, pp 2710-2714, issn 0041-1132, 5 p., 1Article

Enriching targeted sequencing experiments for rare disease allelesEDWARDS, Todd L; ZHUO SONG; CHUN LI et al.Bioinformatics (Oxford. Print). 2011, Vol 27, Num 15, pp 2112-2118, issn 1367-4803, 7 p.Article

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