Results : 76-100/189
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:
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:
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:
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
Authors:
Bhatia, Gaurav
Patterson, Nick
Pasaniuc, Bogdan
Citation: Bhatia, Gaurav et al., Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 368-381
Authors:
Cichon, Sven
Mühleisen, Thomas W.
Degenhardt, Franziska A.
Mattheisen, Manuel
Nöthen, Markus M.
Citation: Cichon, Sven et al., Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 372-381
Authors:
Roach, Jared C.
Glusman, Gustavo
Hubley, Robert
Montsaroff, Stephen Z.
Citation: C. Roach, Jared et al., Chromosomal Haplotypes by Genetic Phasing of Human Families, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 382-397
Authors:
Gal, Andreas
Rau, Isabella
El Matri, Leila
Kreienkamp, Hans-Jürgen
Rosenberg, Thomas
Citation: Gal, Andreas et al., Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 382-390
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 , 88(4), 2011, pp. 397-398
Authors:
Chartier-Harlin, Marie-Christine
Dachsel, Justus C.
Vilariño-Güell, Carles
Citation: Chartier-harlin, Marie-christine et al., Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 398-406
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 399-400
Authors:
Alkuraya, Fowzan S.
Citation: S. Alkuraya, Fowzan, Vogel and Motulsky's Human Genetics, 4th Edition, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 401-401
Authors:
Erez, Ayelet
Shchelochkov, Oleg A.
Plon, Sharon E.
Scaglia, Fernando
Lee, Brendan
Citation: Erez, Ayelet et al., Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 402-421
Authors:
Hu, Hao
Eggers, Katinka
Chen, Wei
Garshasbi, Masoud
Citation: Hu, Hao et al., ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 407-414
Authors:
Bernard, Geneviève
Chouery, Eliane
Putorti, Maria Lisa
Tétreault, Martine
Citation: Bernard, Geneviève et al., Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 415-423
Authors:
López-Hernández, Tania
Ridder, Margreet C.
Montolio, Marisol
Capdevila-Nortes, Xavier
van der Knaap, Marjo S.
Citation: López-hernández, Tania et al., Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 422-432
Authors:
O'hUigin, Colm
Kulkarni, Smita
Xu, Yunping
Deng, Zhihui
Citation: O'Huigin, Colm et al., The Molecular Origin and Consequences of Escape from miRNA Regulation by HLA-C Alleles, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 424-431
Authors:
Onoufriadis, Alexandros
Simpson, Michael A.
Pink, Andrew E.
Di Meglio, Paola
Citation: Onoufriadis, Alexandros et al., Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis, American journal of human genetics (Online) AJHG , 89(3), 2011, pp. 432-437
Authors:
Pereira, Luísa
Soares, Pedro
Radivojac, Predrag
Li, Biao
Samuels, David C.
Citation: Pereira, Luísa et al., Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 433-439