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Results: 51-75/11443
Authors:
Cantor, R.M.
Roy, C.
Lim, J.S.T.
Kaback, M.M.
Citation: Cantor, R.m et al., Sandhoff disease heterozygote detection: a component of population screening for tay-sachs disease carriers. II. Sandhoff disease gene frequencies in american jewish and non-jewish populations, American journal of human genetics , 41-I(1), 1987, pp. 16-26
Authors:
Lucotte, G.
Guérin, P.
Hallé, L.
Loirat, F.
Hazout, S.
Citation: G. Lucotte, et al., Y chromosome DNA polymorphisms in two african populations, American journal of human genetics , 45-I(1), 1989, pp. 16-20
Authors:
Knoll, J. H. M.
Glatt, K.A.
Nicholls, R. D.
Malcolm, S.
Lalande, M.
Citation: M. Knoll, J. H. et al., Chromosome 15 uniparental disomy is not frequent in Angelman syndrome., American journal of human genetics , 48-I(1), 1991, pp. 16-21
Authors:
Zeng, Wen-Qi
Al-Yamani, Eiman
Acierno, James S. Jr.
Slaugenhaupt, Susan
Gillis, Tammy
MacDonald, Marcy E.
Ozand, Pinar T.
Gusella, James F.
Citation: Zeng, Wen-qi et al., Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3, American journal of human genetics , 77(1), 2005, pp. 16-26
Authors:
Levinson, Douglas F.
Levinson, Matthew D.
Segurado, Ricardo
Lewis, Cathryn M.
Citation: F. Levinson, Douglas et al., Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis, American journal of human genetics , 73(1), 2003, pp. 17-33
Authors:
Higashi, Yujiro
Tanae, Ayako
Inoue, Hideshi
Fuji-Kuriyama, Yoshiaki
Citation: Higashi, Yujiro et al., Evidence for ffrequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency, American journal of human genetics , 42(1), 1988, pp. 17-25
Authors:
Yu, Xihiang
Knott, Sara A.
Visscher, Peter M.
Citation: Yu, Xihiang et al., Theoretical and Empirical Power of Regression and Maximum-Likelihood Methods to Map Quantitative Trait Loci in General Pedigrees, American journal of human genetics , 75(1), 2004, pp. 17-26
Authors:
Liu, Fan
Arias-Vásquez, Alejandro
Sleegers, Kristel
Aulchenko, Yurii S
Kayser, Manfred
Sanchez-Juan, Pascual
Feng, Bing-Jian
Bertoli-Avella, Aida M.
Van Swieten, John
Axenovich, Tatiana I.
Heutink, Peter
Van Broeckhoven, Christine
Oostra, Ben A.
Van Duijn, Cornelia M.
Citation: Liu, Fan et al., A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population, American journal of human genetics , 81(1), 2007, pp. 17-31
Authors:
Dixon, M.J.
Read, A.P.
Donnai, D.
Colley, A.
Dixon, J.
Williamson, R.
Citation: Dixon, M.j et al., The gene for Treacher Collins syndrome maps to the long arm of chromosome 5., American journal of human genetics , 49-I(1), 1991, pp. 17-16
Authors:
Okano, Yoshiyuki
Eisensmith, Randy C.
Wang, Tao
Steinman, Beat
Gitzelmann, Richard
Woo, Savio L. C.
Citation: Okano, Yoshiyuki et al., Missense mutations associated with RFLP haplotypes i and 4 of the human phenylalanine hydroxylase gene, American journal of human genetics , 46-I(1), 1990, pp. 18-25
Authors:
Morton, Newton
Maniatis, Nikolas
Zhang, Weihua
Ennis, Sarah
Collins, Andrew
Citation: Morton, Newton et al., Genome Scanning by Composite Likelihood, American journal of human genetics , 80(1), 2007, pp. 19-28
Authors:
Friedmann T.
Citation: T. Friedmann, Rapid Nucleotide Sequencing of DNA, American journal of human genetics , 31(1), 1979, pp. 19-28
Authors:
Hook Ernest B.
Lindsioe Agneta
Citation: B. Hook Ernest et Lindsioe Agneta, Down Syndrome in Live Births by Single Year Maternal Age Interval in a Swedish Study: Comparison with Results from a New York State Study, American journal of human genetics , 30(1), 1978, pp. 19-27
Authors:
Burgess, Rosemary
Millar, Ian D.
Leroy, Bart P.
Urquhart, Jill E.
Black, Graeme C.M.
Citation: Burgess, Rosemary et al., Biallelic mutation of BEST1 causes a distinct retinopathy in humans, American journal of human genetics , 82(1), 2008, pp. 19-31
Authors:
Iyengar, Sudha K.
Song, Danhong
Klein, Barbara E.
Klein, Ronald
Schick, James H.
Humphrey, Jennifer
Millard, Christopher
Liptak, Rachel
Russo, Karlie
Jun, Gyungah
Lee, Kristine E.
Fijal, Bonnie
Elston, Robert C.
Citation: K. Iyengar, Sudha et al., Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration, American journal of human genetics , 74(1), 2004, pp. 20-39
Authors:
Ledbetter, David H.
Rich, Donna C.
O'Connell, Peter
Leppert, Mark
Carey, John C.
Citation: H. Ledbetter, David et al., Precise localization of NFI to 17q11.2 by balanced translocation, American journal of human genetics , 44(1), 1989, pp. 20-24
Authors:
Shiloh, Yosef
Litvak, Gilad
Ziv, Yael
Lehner, Thomas
SAndkuyl, Lodewijk
Hidesheimen, Minka
Buchris, Vered
Cremes, Frans P.M.
Szabo, Paul
White, Bradley N.
Holden, Janette J. A.
Ott, Jurg
Citation: Shiloh, Yosef et al., Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.1, American journal of human genetics , 47-I(1), 1990, pp. 20-27
Authors:
Boehnke, Michael
Arnheim, Norman
Li, Honghua
Collins, Francis S.
Citation: Boehnke, Michael et al., Fine structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations, American journal of human genetics , 45-I(1), 1989, pp. 21-32
Authors:
Beratis, N. G. , LaBadie, G. U. and Hirschhorn, K.
Citation: K. Beratis, N. G. , Labadie, G. U. And Hirschhorn,, Genetic Heterogeneity in Acid alpha-Glucosidase Deciency, American journal of human genetics , 35(1), 1983, pp. 21-33
Authors:
Katsanis, Nicholas
Eichers, Erica R.
Ansley, Stephan J.
Lewis, Richard Alan
Kayserili, Hülya
Hoskins, Bethan E.
Scambler, Peter J.
Beales, Philip L.
Lupski, James R.
Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29
Authors:
Boehnke, Michael
Citation: Boehnke, Michael, Allele frequency estimation from data on relatives., American journal of human genetics , 48-I(1), 1991, pp. 22-25
Authors:
Sarquis, Marta S.
Agrawal, Shipra
Shen, Lei
Pilarski, Robert
Zhou, Xiao-Ping
Eng, Charis
Citation: S. Sarquis, Marta et al., Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome, American journal of human genetics , 79(1), 2006, pp. 23-30
Authors:
Estivill, Xavier
Farrall, Martin
Williamson, Robert
Ferrari, Maurizio
Seia, Manuela
Giunta, Anna Maria
Novelli, Giuseppe
Potenza, Lucia
Dallapicolla, Bruno
Borgo, Graziella
Gasparini, Paolo
Pignatti, Pier F.
De Benedetti, Laura
Vitale, Emilia
Devoto, Marcella
Romeo, Giovanni
Citation: Estivill, Xavier et al., Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in italian families: a collaborative study, American journal of human genetics , 43-I(1), 1988, pp. 23-28
Authors:
Blom, Daniël
Speijer, Dave
Linthorst, Gabor E.
Donker-Koopman, Wilma G.
Strijland, Anneke
Aerts, M.F.G. Johannes
Citation: Blom, Daniël et al., Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human .-Galactosidase A mRNA, American journal of human genetics , 72(1), 2003, pp. 23-31
Authors:
Zoghbi, Huda Y.
Jodice, Carla
Sandkuijl, Lodewijk A.
Kwiatkowski, Thomas J. Jr
McCall, Alanna E.
Huntoon, Sally A.
Lulli, Patrizia
Spadaro, Maria
Litt, Michael
Cann, Howard M.
Frontali, Marina
Terrenato, Luciano
Citation: Y. Zoghbi, Huda et al., The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds, American journal of human genetics , 49-I(1), 1991, pp. 23-30