AAAAAA

   
Results: 1-25 | 26-50 | 51-75 | 76-100 | >>

Table of contents of journal: *American journal of human genetics (Online)

Results: 76-100/870
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly
Authors: Yoneda, Yuriko Haginoya, Kazuhiro Arai, Hiroshi Yamaoka, Shigeo
Citation: Yoneda, Yuriko et al., De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen .2 Chain Cause Porencephaly, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 86-90
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
Authors: Baple, Emma L. Maroofian, Reza Chioza, Barry A.
Citation: L. Baple, Emma et al., Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures, American journal of human genetics (Online) AJHG , 94(1), 2014, pp. 87-94
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Authors: Onoufriadis, Alexandros Paff, Tamara Antony, Dinu
Citation: Onoufriadis, Alexandros et al., Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia, American journal of human genetics (Online) AJHG , 92(1), 2013, pp. 88-98
Long Runs of Homozygosity Are Enriched for Deleterious Variation
Authors: Szpiech, Zachary A. Xu, Jishu Pemberton, Trevor J.
Citation: A. Szpiech, Zachary et al., Long Runs of Homozygosity Are Enriched for Deleterious Variation, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 90-102
Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
Authors: Walsh, Tom Shahin, Hashem Elkan-Miller, Tal Lee, Ming K. Kanaan, Moien
Citation: Walsh, Tom et al., Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 90-94
COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
Authors: Jeanne, Marion Labelle-Dumais, Cassandre Jorgensen, Jeff Kauffman, W. Berkeley
Citation: Jeanne, Marion et al., COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 91-101
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
Authors: Abouzeid, Hana Boisset, Gaëlle Favez, Tatiana Youssef, Mohamed Schorderet, Daniel F.
Citation: Abouzeid, Hana et al., Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 92-98
Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
Authors: Dowdle, William E. Robinson, Jon F. Kneist, Andreas Sirerol-Piquer, M. Salomé
Citation: E. Dowdle, William et al., Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 94-110
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
Authors: Khelifa, Mariem Ben Coutton, Charles Zouari, Raoudha
Citation: Khelifa, Mariem Ben et al., Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella, American journal of human genetics (Online) AJHG , 94(1), 2014, pp. 95-104
Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13
Authors: Isidor, Bertrand Pichon, Olivier Redon, Richard Day-Salvatore, Debra Le Caignec, Cédric
Citation: Isidor, Bertrand et al., Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 95-100
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Authors: Johnston, Jennifer J. Rubinstein, Wendy S. Facio, Flavia M.
Citation: J. Johnston, Jennifer et al., Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 97-108
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Authors: Knowles, Michael R. Leigh, Margaret W. Ostrowski, Lawrence E.
Citation: R. Knowles, Michael et al., Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia, American journal of human genetics (Online) AJHG , 92(1), 2013, pp. 99-106
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Authors: Guelly, Christian Zhu, Peng-Peng Leonardis, Lea Papi., Lea Auer-Grumbach, Michaela
Citation: Guelly, Christian et al., Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 99-105
Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51
Authors: Walsh, Tom Pierce, Sarah B. Lenz, Danielle R. Brownstein, Zippora Avraham, Karen B.
Citation: Walsh, Tom et al., Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 101-109
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Authors: Estrada-Cuzcano, Alejandro Neveling, Kornelia Kohl, Susanne Banin, Eyal
Citation: Estrada-cuzcano, Alejandro et al., Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 102-109
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
Authors: Gamsiz,Ece D. Viscidi, Emma W. Frederick, Abbie M.
Citation: D. Gamsiz,ece et al., Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 103-109
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Authors: Hoover-Fong, Julie Sobreira, Nara Jurgens, Julie
Citation: Hoover-fong, Julie et al., Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, American journal of human genetics (Online) AJHG , 94(1), 2014, pp. 105-112
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
Authors: Thiel, Christian Kessler, Kristin Giessl, Andreas Dimmler, Arno Rauch, Anita
Citation: Thiel, Christian et al., NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 106-114
Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease
Authors: Elding, Heather Lau, Winston Swallow, Dallas M.
Citation: Elding, Heather et al., Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease, American journal of human genetics (Online) AJHG , 92(1), 2013, pp. 107-113
Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors
Authors: Bedel, Aurélie Taillepierre, Miguel Guyonnet-Duperat, Véronique
Citation: Bedel, Aurélie et al., Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 109-121
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
Authors: Roosing, Susanne Rohrschneider, Klaus Beryozkin, Avigail
Citation: Roosing, Susanne et al., Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy, American journal of human genetics (Online) AJHG , 93(1), 2013, pp. 110-117
Mutations in EZH2 Cause Weaver Syndrome
Authors: Gibson, William T. Hood, Rebecca L. Zhan, Shing Hei Bulman, Dennis E.
Citation: T. Gibson, William et al., Mutations in EZH2 Cause Weaver Syndrome, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 110-118
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
Authors: Lapunzina, Pablo Aglan, Mona Temtamy, Samia Caparrós-Martín, José A. Ruiz-Perez, Victor L.
Citation: Lapunzina, Pablo et al., Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 110-114
Recent Admixture in an Indian Population of African Ancestry
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
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Authors: Yamamoto, Guilherme L. Baratela, Wagner A.R. Almeida, Tatiana F.
Citation: L. Yamamoto, Guilherme et al., Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, American journal of human genetics (Online) AJHG , 94(1), 2014, pp. 113-119
Risultati: 1-25 | 26-50 | 51-75 | 76-100 | >>