Results : 101-125/322
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:
Li, Mingkun
Schönberg, Anna
Schaefer, Michael
Schroeder, Roland
Stoneking, Mark
Citation: Li, Mingkun et al., Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 237-249
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:
Martinelli, Simone
De Luca, Alessandro
Stellacci, Emilia
Rossi, Cesare
Tartaglia, Marco
Citation: Martinelli, Simone et al., Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 250-257
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:
Citation: , 2010 ASHG Awards and Addresses, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 253-253
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:
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:
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:
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:
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:
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:
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:
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:
Pierce, Sarah B.
Walsh, Tom
Chisholm, Karen M.
Lee, Ming K.
King, Mary-Claire
Citation: B. Pierce, Sarah et al., Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 282-288
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:
Tukel, Turgut
.o.i., Dra.en
Al-Gazali, Lihadh I.
Erazo, Mónica
Desnick, Robert J.
Citation: Tukel, Turgut et al., Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 289-296
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