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Results 1 to 25 of 6817

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete AchromatopsiaKOHL, Susanne; COPPIETERS, Frauke; DEN HOLLANDER, Anneke I et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 527-532, issn 0002-9297, 6 p.Article

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder PopulationCHONG, Jessica X; OUWENGA, Rebecca; ANDERSON, Rebecca L et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 608-620, issn 0002-9297, 13 p.Article

A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type VCHO, Tae-Joon; LEE, Kyung-Eun; ZANG HEE LEE et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 343-348, issn 0002-9297, 6 p.Article

AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y ChromosomesROZEN, Steven G; MARSZALEK, Janet D; IRENZE, Kathryn et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 890-896, issn 0002-9297, 7 p.Article

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and AutoimmunityLOPEZ-HERRERA, Gabriela; TAMPELLA, Giacomo; SRUGO, Izhak et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 986-1001, issn 0002-9297, 16 p.Article

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki SyndromeLEDERER, Damien; GRISART, Bernard; CRISTINA DIGILIO, Maria et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 119-124, issn 0002-9297, 6 p.Article

Divergent Whole-Genome Methylation Maps of Human and Chimpanzee Brains Reveal Epigenetic Basis of Human Regulatory EvolutionJIA ZENG; KONOPKA, Genevieve; HUNT, Brendan G et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 455-465, issn 0002-9297, 11 p.Article

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized EpilepsyHEINZEN, Erin L; DEPONDT, Chantal; CRONIN, Kenneth D et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 293-302, issn 0002-9297, 10 p.Article

Exome Sequencing Identifies FUS Mutations as a Cause of Essential TremorMERRIER, Nancy D; GIRARD, Simon L; NOREAU, Anne et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 313-319, issn 0002-9297, 7 p.Article

Exome Sequencing Identifies PDE4D Mutations in AcrodysostosisLEE, Hane; GRAHAM, John M; RIMOIN, David L et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 746-751, issn 0002-9297, 6 p.Article

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg SyndromeCHIARA MANZINI, M; TAMBUNAN, Dimira E; RODRIGUEZ, Jacqueline et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 541-547, issn 0002-9297, 7 p.Article

Exploring Population Admixture Dynamics via Empirical and Simulated Genome-wide Distribution of Ancestral Chromosomal SegmentsWENFEI JIN; SIJIA WANG; HAIFENG WANG et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 849-862, issn 0002-9297, 14 p.Article

Family-Based Association Studies for Next-Generation SequencingYUN ZHU; MOMIAO XIONG.American journal of human genetics. 2012, Vol 90, Num 6, pp 1028-1045, issn 0002-9297, 18 p.Article

Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63ZARNEGAR, Brian J; WEBSTER, Dan E; LOPEZ-PAJARES, Vanessa et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 435-443, issn 0002-9297, 9 p.Article

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with MicrocephalyLINES, Matthew A; LIJIA HUANG; NAVA, Caroline et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 369-377, issn 0002-9297, 9 p.Article

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 LocusSPIELMANN, Malte; BRANCATI, Francesco; FERRARI, Paola et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 629-635, issn 0002-9297, 7 p.Article

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2SPIEGEL, Ronen; PINES, Ophry; SHALEV, Stavit et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 518-523, issn 0002-9297, 6 p.Article

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 MutationsPERRAULT, Isabelle; SAUNIER, Sophie; ORSSAUD, Christophe et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 864-870, issn 0002-9297, 7 p.Article

Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming FactorsBEDEL, Aurelie; TAILLEPIERRE, Miguel; LALANNE, Magalie et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 109-121, issn 0002-9297, 13 p.Article

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic AcidosisWERAARPACHAI, Woranontee; SASARMAN, Florin; NISHIMURA, Tamiko et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 142-151, issn 0002-9297, 10 p.Article

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis ImperfectaPARRY, David A; BROOKES, Steven J; DASHASH, Mayssoon et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 565-571, issn 0002-9297, 7 p.Article

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular InvolvementESTRADA-CUZCANO, Alejandro; NEVELING, Kornelia; LETTEBOER, Stef J. F et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 102-109, issn 0002-9297, 8 p.Article

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac DeathNYEGAARD, Mette; OVERGAARD, Michael T; FOSDAL, Inger et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 703-712, issn 0002-9297, 10 p.Article

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor SyndromeHOOD, Rebecca L; LINES, Matthew A; LACOMBE, Didier et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 308-313, issn 0002-9297, 6 p.Article

On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic PrivacyHAE KYUNG IM; GAMAZON, Eric R; NICOLAE, Dan L et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 591-598, issn 0002-9297, 8 p.Article

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