Results : 226-250/870
Authors:
Moffatt, Pierre
Amor, Mouna Ben
Glorieux, Francis H.
Citation: Moffatt, Pierre et al., Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 252-258
Authors:
Froyen, Guy
Belet, Stefanie
Martinez, Francisco
Citation: Froyen, Guy et al., Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements, American journal of human genetics (Online) AJHG , 91(2), 2012, pp. 252-264
Authors:
Özgül, R.za Köksal
Siemiatkowska, Anna M.
Yücel, Didem
Myers,Connie A.
Citation: Özgül, R.za Köksal et al., Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 253-264
Authors:
Citation: , 2010 ASHG Awards and Addresses, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 253-253
Authors:
McInnes, Roderick R.
Citation: R. Mcinnes, Roderick, 2010 Presidential Address: Culture: The Silent Language Geneticists Must Learn. Genetic Research with Indigenous Populations, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 254-261
Authors:
Cheung, Charles Y.K.
Blue, Elizabeth Marchani
Wijsman, Ellen M.
Citation: Cheung, Charles Y.k et al., A Statistical Framework to Guide Sequencing Choices in Pedigrees, American journal of human genetics (Online) AJHG , 94(2), 2014, pp. 257-267
Authors:
Dvir, Liron
Srour, Gassoub
Abu-Ras, Rasmi
Miller, Benjamin
Ben-Yosef, Tamar
Citation: Dvir, Liron et al., Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 258-264
Authors:
Stuart, Helen M.
Roberts, Neil A.
Burgu, Berk
Daly, Sarah B.
Citation: M. Stuart, Helen et al., LRIG2 Mutations Cause Urofacial Syndrome, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 259-264
Authors:
Numata, Shusuke
Ye, Tianzhang
Hyde, Thomas M.
Guitart-Navarro, Xavier
Citation: Numata, Shusuke et al., DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 260-272
Authors:
Elston, Robert C.
Citation: C. Elston, Robert, 2010 William Allan Award Introduction: Jürg Ott, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 262-263
Authors:
Cheng, Ching-Yu
Schache, Maria
Ikram, M. Kamran
Citation: Cheng, Ching-yu et al., Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error, American journal of human genetics (Online) AJHG , 93(2), 2013, pp. 264-277
Authors:
Ott, Jürg
Citation: Ott, Jürg, William Allan Award Address: On the Role and Soul of a Statistical Geneticist, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 264-268
Authors:
Poulton, Cathryn J.
Schot, Rachel
Kheradmand Kia, Sima
Jones, Marta
Citation: J. Poulton, Cathryn et al., Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 265-276
Authors:
Mendez, Fernando L.
Watkins, Joseph C.
Hammer, Michael F.
Citation: L. Mendez, Fernando et al., A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea, American journal of human genetics (Online) AJHG , 91(2), 2012, pp. 265-274
Authors:
Fares-Taie, Lucas
Gerber, Sylvie
Chassaing, Nicolas
Citation: Fares-taie, Lucas et al., ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 265-270
Authors:
Brancati, Francesco
Fortugno, Paola
Bottillo, Irene
Lopez, Marc
Dallapiccola, Bruno
Citation: Brancati, Francesco et al., Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 265-273
Authors:
Esteves, Typhaine
Durr, Alexandra
Mundwiller, Emeline
Citation: Esteves, Typhaine et al., Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia, American journal of human genetics (Online) AJHG , 94(2), 2014, pp. 268-277
Authors:
Motulsky, Arno
Epstein, Charles J.
Citation: Motulsky, Arno et J. Epstein, Charles, 2010 Victor A. McKusick Leadership Award Introduction and Address, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 269-272
Authors:
Böhm, Johann
Chevessier, Frédéric
De Paula, André Maues
Citation: Böhm, Johann et al., Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy, American journal of human genetics (Online) AJHG , 92(2), 2013, pp. 271-278
Authors:
Torgerson, Dara G.
Capurso, Daniel
Mathias, Rasika A.
Graves, Penelope E.
Citation: G. Torgerson, Dara et al., Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility, American journal of human genetics (Online) AJHG , 90(2), 2012, pp. 273-281
Authors:
Norton, Nadine
Li, Duanxiang
Rieder, Mark J.
Siegfried, Jill D.
Hershberger, Ray E.
Citation: Norton, Nadine et al., Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 273-282
Authors:
Oji, Vinzenz
Eckl, Katja-Martina
Aufenvenne, Karin
Nätebus, Marc
Hennies, Hans Christian
Citation: Oji, Vinzenz et al., Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 274-281
Authors:
Pemberton, Trevor J.
Absher, Devin
Feldman, Marcus W.
Citation: J. Pemberton, Trevor et al., Genomic Patterns of Homozygosity in Worldwide Human Populations, American journal of human genetics (Online) AJHG , 91(2), 2012, pp. 275-292
Authors:
Tzeng, Jung-Ying
Zhang, Daowen
Pongpanich, Monnat
Smith, Chris
Citation: Tzeng, Jung-ying et al., Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 277-288
Authors:
Howard, Malcolm F.
Murakami, Yoshiko
Pagnamenta, Alistair T.
Citation: F. Howard, Malcolm et al., Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation, American journal of human genetics (Online) AJHG , 94(2), 2014, pp. 278-287