Results : 51-75/322
Authors:
Narang, Ankita
Jha, Pankaj
Rawat, Vimal
Mukhopadhayay, Arijit
Citation: Narang, Ankita et al., Recent Admixture in an Indian Population of African Ancestry, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 111-120
Authors:
Pippucci, Tommaso
Savoia, Anna
Perrotta, Silverio
Pujol-Moix, Núria
Balduini, Carlo L.
Citation: Pippucci, Tommaso et al., Mutations in the 5. UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 115-120
Authors:
Antonicka, Hana
Østergaard, Elsebet
Sasarman, Florin
Weraarpachai, Woranontee
Shoubridge, Eric A.
Citation: Antonicka, Hana et al., Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 115-122
Authors:
Lederer, Damien
Grisart, Bernard
Digilio, Maria Cristina
Benoit, Valérie
Citation: Lederer, Damien et al., Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 119-124
Authors:
Kobayashi, Hatasu
Abe, Koji
Matsuura, Tohru
Ikeda, Yoshio
Citation: Kobayashi, Hatasu et al., Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 121-130
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(2), 2011, pp. 123-124
Authors:
Pluzhnikov, Anna
Below, Jennifer E.
Konkashbaev, Anuar
Tikhomirov, Anna
Cox, Nancy J.
Citation: Pluzhnikov, Anna et al., Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 123-128
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 125-126
Authors:
Zhang, Zhenlin
Xia, Weibo
He, Jinwei
Zhang, Zeng
Citation: Zhang, Zhenlin et al., Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 125-132
Authors:
Borck, Guntram
Rehman, Atteeq Ur
Lee, Kwanghyuk
Pogoda, Hans-Martin
Kubisch, Christian
Citation: Borck, Guntram et al., Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 127-137
Authors:
Rodríguez-Santiago, Benjamín
Malats, Núria
Rothman, Nathaniel
Armengol, Lluís
Pérez-Jurado, Luis A
Citation: Rodríguez-santiago, Benjamín et al., Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 129-138
Authors:
Kullo, Iftikhar J.
Ding, Keyue
Shameer, Khader
McCarty, Catherine A.
Citation: J. Kullo, Iftikhar et al., Complement Receptor 1 Gene Variants Are Associated with Erythrocyte Sedimentation Rate, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 131-138
Authors:
Vaags, Andrea K.
Lionel, Anath C.
Sato, Daisuke
Goodenberger, McKinsey
Citation: K. Vaags, Andrea et al., Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 133-141
Authors:
Tao, Hirotaka
Manak, J. Robert
Sowers, Levi
Mei, Xue
Bassuk, Alexander G.
Citation: Tao, Hirotaka et al., Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 138-149
Authors:
Ozaltin, Fatih
Ibsirlioglu, Tulin
Taskiran, Ekim Z.
Baydar, Ertoy
Citation: Ozaltin, Fatih et al., Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 139-147
Authors:
Liu, Jimmy Z.
Mcrae, Allan F.
Nyholt, Dale R
Medland, Sarah E.
Macgregor, Stuart
Citation: Z. Liu, Jimmy et al., A Versatile Gene-Based Test for Genome-wide Association Studies, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 139-145
Authors:
Weraarpachai, Woranontee
Sasarman, Florin
Nishimura, Tamiko
Antonicka, Hana
Citation: Weraarpachai, Woranontee et al., Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 142-151
Authors:
Sun, Yu
Almomani, Rowida
Aten, Emmelien
Celli, Jacopo
Breuning, Martijn H.
Citation: Sun, Yu et al., Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 146-153
Authors:
Hanson, Dan
Murray, Philip G.
O'Sullivan, James
Urquhart,Jill
Citation: Hanson, Dan et al., Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 148-153
Authors:
Ghassibe-Sabbagh, Michella
Desmyter, Laurence
Langenberg, Tobias
Claes, Filip
Vikkula, Miikka
Citation: Ghassibe-sabbagh, Michella et al., FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 150-161
Authors:
Heron, Sarah E.
Grinton, Bronwyn E.
Kivity, Sara
Afawi,Zaid
Citation: E. Heron, Sarah et al., PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 152-160
Authors:
Shah, Anish M.
Tamang, Rakesh
Moorjani, Priya
Selvi Rani, Deepa
Citation: M. Shah, Anish et al., Indian Siddis: African Descendants with Indian Admixture, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 154-161
Authors:
Alvarado, David M
Aferol, Hyuliya
McCall, Kevin
Huang, Jason B
Gurnett, Christina A.
Citation: M. Alvarado, David et al., Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 154-160
Authors:
Caputo, Viviana
Cianetti, Luciano
Niceta, Marcello
Carta, Claudio
Citation: Caputo, Viviana et al., A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 161-169
Authors:
Vilariño-Güell, Carles
Wider, Christian
Ross, Owen A.
Dachsel, Justus C.
Citation: Vilariño-güell, Carles et al., VPS35 Mutations in Parkinson Disease, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 162-167