Results : 126-150/322
Authors:
McEvoy, Brian P.
Lind, Joanne M.
Wang, Eric T.
Moyzis, Robert K.
Wilton, Alan N.
Citation: P. Mcevoy, Brian et al., Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 297-305
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:
Shaheen, Ranad
Al-Owain, Mohammed
Sakati, Nadia
Alzayed, Zayed S.
Alkuraya, Fowzan S.
Citation: Shaheen, Ranad et al., FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 306-307
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:
Alanay, Yasemin
Krakow, Deborah
Citation: Alanay, Yasemin et Krakow, Deborah, Response to Shaheen et al, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 308-308
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 311-312
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 313-314
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:
Fox, Michelle
Citation: Fox, Michelle, A Guide to Genetic Counseling, 2nd Edition, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 315-315
Authors:
Awadalla, Philip
Gauthier, Julie
Myers, Rachel A.
Casals, Ferran
Rouleau, Guy A.
Citation: Awadalla, Philip et al., Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 316-324
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
Authors:
Doi, Hiroshi
Yoshida, Kunihiro
Yasuda, Takao
Fukuda, Mitsunori
Matsumoto, Naomichi
Citation: Doi, Hiroshi et al., Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 320-327
Authors:
Wan, Xiang
Yang, Can
Yang, Qiang
Xue, Hong
Yu, Weichuan
Citation: Wan, Xiang et al., BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 325-340
Authors:
Shaheen, Ranad
Faqeih, Eissa
Sunker, Asma
Morsy, Heba
Alkuraya, Fowzan S.
Citation: Shaheen, Ranad et al., Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 328-333
Authors:
Stuiver, Marchel
Lainez, Sergio
Will, Constanze
Terryn, Sara
Müller, Dominik
Citation: Stuiver, Marchel et al., CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 333-343
Authors:
Larsson, Mats
Duffy, David L.
Zhu, Gu
Liu, Jimmy Z.
Citation: Larsson, Mats et al., GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 334-343
Authors:
Ballantyne, Kaye N.
Goedbloed, Miriam
Fang, Rixun
Schaap, Onno
Kayser, Manfred
Citation: N. Ballantyne, Kaye et al., Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 341-353
Authors:
Koscinski, Isabelle
ElInati, Elias
Fossard, Camille
Redin, Claire
Viville, Stéphane
Citation: Koscinski, Isabelle et al., DPY19L2 Deletion as a Major Cause of Globozoospermia, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 344-350
Authors:
Williamson, Robin E.
Citation: E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 349-350
Authors:
Harbuz, Radu
Zouari, Raoudha
Pierre, Virginie
Khelifa, Mariem Ben
Ray, Pierre F.
Citation: Harbuz, Radu et al., A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 351-361
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 351-353
Authors:
Lin, Dan-Yu
Tang, Zheng-Zheng
Citation: Lin, Dan-yu et Tang, Zheng-zheng, A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 354-367
Authors:
O'Driscoll, Mary C.
Daly, Sarah B.
Urquhart, Jill E.
Black, Graeme C.M.
Crow, Yanick J.
Citation: C. O'Driscoll, Mary et al., Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 354-364
Authors:
Becker, Jutta
Semler, Oliver
Gilissen, Christian
Li, Yun
Netzer, Christian
Citation: Becker, Jutta et al., Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 362-371