Results : 51-75/189
Authors:
Cario, Holger
Smith, Desirée E.C.
Blom, Henk
Blau, Nenad
Schwarz, Klaus
Citation: Cario, Holger et al., Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 226-231
Authors:
Bae, Gyu-Un
Domené, Sabina
Roessler, Erich
Schachter, Karen
Citation: Bae, Gyu-un et al., Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 231-240
Authors:
Shulman, Joshua M.
Chipendo, Portia
Chibnik, Lori B.
Aubin, Cristin
De Jager, Philip L.
Citation: M. Shulman, Joshua et al., Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 232-238
Authors:
Soares, Pedro
Rito, Teresa
Trejaut, Jean
Mormina, Maru
Richards, Martin B.
Citation: Soares, Pedro et al., Ancient Voyaging and Polynesian Origins, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 239-247
Authors:
Nosková, Lenka
Stráneck., Viktor
Hartmannová, Hana
P.istoupilová, Anna
Citation: Nosková, Lenka et al., Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 241-252
Authors:
Bungartz, Kathryn D.
Citation: D. Bungartz, Kathryn, This Month in The Journal, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 249-250
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 251-252
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:
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:
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:
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:
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:
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:
Li, Miao-Xin
Gui, Hong-Sheng
Kwan, Johnny S.H.
Sham, Pak C.
Citation: Li, Miao-xin et al., GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 283-293
Authors:
Sirmaci, Asli
Spiliopoulos, Michail
Brancati, Francesco
Powell, Eric
Citation: Sirmaci, Asli et al., Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 289-294
Authors:
Lee, Sang Hong
Wray, Naomi R.
Goddard, Michael E.
Visscher, Peter M.
Citation: Lee, Sang Hong et al., Estimating Missing Heritability for Disease from Genome-wide Association Studies, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 294-305
Authors:
Palomares, María
Delicado, Alicia
Mansilla, Elena
de Torres, María Luisa
Citation: Palomares, María et al., Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 295-301
Authors:
Nousbeck, Janna
Burger, Bettina
Fuchs-Telem, Dana
Pavlovsky, Mor
Citation: Nousbeck, Janna et al., A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 302-307
Authors:
Hamdan, Fadi F.
Gauthier, Julie
Araki, Yoichi
Lin, Da-Ting
Michaud, Jacques L.
Citation: F. Hamdan, Fadi et al., Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 306-316
Authors:
Weedon, Michael N.
Hastings, Robert
Caswell, Richard
Xie, Weijia
Citation: N. Weedon, Michael et al., Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 308-312
Authors:
Abu-Safieh, Leen
Abboud, Emad B.
Alkuraya, Hisham
Shamseldin, Hanan
Citation: Abu-safieh, Leen et al., Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 313-319
Authors:
Campbell, Catarina D.
Sampas, Nick
Tsalenko, Anya
Sudmant, Peter H.
Eichler, Evan E.
Citation: D. Campbell, Catarina et al., Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 317-332