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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Wright, Caroline F. ; West, Ben ; Tuke, Marcus ; Jones, Samuel E. ; Patel, Kashyap ; Laver, Thomas W. ; Beaumont, Robin N. ; Tyrrell, Jessica ; Wood, Andrew R. ; Frayling, Timothy M. ; Hattersley, Andrew T. ; Weedon, Michael N.

American journal of human genetics, 2019-02, Vol.104 (2), p.275-286 [Periódico revisado por pares]

United States: Elsevier Inc

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2
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Sleven, Hannah ; Welsh, Seth J. ; Yu, Jing ; Churchill, Mair E.A. ; Wright, Caroline F. ; Henderson, Alex ; Horvath, Rita ; Rankin, Julia ; Vogt, Julie ; Magee, Alex ; McConnell, Vivienne ; Green, Andrew ; King, Mary D. ; Cox, Helen ; Armstrong, Linlea ; Lehman, Anna ; Nelson, Tanya N. ; Williams, Jonathan ; Clouston, Penny ; Hagman, James ; Németh, Andrea H.

American journal of human genetics, 2017-01, Vol.100 (1), p.138-150 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Runs of Homozygosity in European Populations
Runs of Homozygosity in European Populations
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Runs of Homozygosity in European Populations

McQuillan, Ruth ; Leutenegger, Anne-Louise ; Abdel-Rahman, Rehab ; Franklin, Christopher S. ; Pericic, Marijana ; Barac-Lauc, Lovorka ; Smolej-Narancic, Nina ; Janicijevic, Branka ; Polasek, Ozren ; Tenesa, Albert ; MacLeod, Andrew K. ; Farrington, Susan M. ; Rudan, Pavao ; Hayward, Caroline ; Vitart, Veronique ; Rudan, Igor ; Wild, Sarah H. ; Dunlop, Malcolm G. ; Wright, Alan F. ; Campbell, Harry ; Wilson, James F.

American journal of human genetics, 2008-09, Vol.83 (3), p.359-372 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Breuer, Debra K. ; Yashar, Beverly M. ; Filippova, Elena ; Hiriyanna, Suja ; Lyons, Robert H. ; Mears, Alan J. ; Asaye, Bersabell ; Acar, Ceren ; Vervoort, Raf ; Wright, Alan F. ; Musarella, Maria A. ; Wheeler, Patricia ; MacDonald, Ian ; Iannaccone, Alessandro ; Birch, David ; Hoffman, Dennis R. ; Fishman, Gerald A. ; Heckenlively, John R. ; Jacobson, Samuel G. ; Sieving, Paul A. ; Swaroop, Anand

American journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Gunning, Adam C. ; Strucinska, Klaudia ; Muñoz Oreja, Mikel ; Parrish, Andrew ; Caswell, Richard ; Stals, Karen L. ; Durigon, Romina ; Durlacher-Betzer, Karina ; Cunningham, Mitchell H. ; Grochowski, Christopher M. ; Baptista, Julia ; Tysoe, Carolyn ; Baple, Emma ; Lahiri, Nayana ; Homfray, Tessa ; Scurr, Ingrid ; Armstrong, Catherine ; Dean, John ; Fernandez Pelayo, Uxoa ; Jones, Aleck W.E. ; Taylor, Robert W. ; Misra, Vinod K. ; Yoon, Wan Hee ; Wright, Caroline F. ; Lupski, James R. ; Spinazzola, Antonella ; Harel, Tamar ; Holt, Ian J. ; Ellard, Sian

American journal of human genetics, 2020-02, Vol.106 (2), p.272-279 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
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Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates

Tuke, Marcus ; Tyrrell, Jessica ; Ruth, Katherine S. ; Beaumont, Robin N. ; Wood, Andrew R. ; Murray, Anna ; Frayling, Timothy M. ; Weedon, Michael N. ; Wright, Caroline F.

American journal of human genetics, 2020-08, Vol.107 (2), p.325-329 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
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Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

Hoffman, Hal M. ; Wright, Fred A. ; Broide, David H. ; Wanderer, Alan A. ; Kolodner, Richard D.

American journal of human genetics, 2000-05, Vol.66 (5), p.1693-1698 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E. ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R. ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J. ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M. ; Wiederkehr, Michaël ; Wright, Caroline F. ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M. ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S. ; Reymond, Alexandre

American journal of human genetics, 2018-01, Vol.102 (1), p.116-132 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design
Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design
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Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design

Vitart, Veronique ; Carothers, Andrew D. ; Hayward, Caroline ; Teague, Peter ; Hastie, Nicholas D. ; Campbell, Harry ; Wright, Alan F.

American journal of human genetics, 2005-05, Vol.76 (5), p.763-772 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
Pitfalls in Homozygosity Mapping
Pitfalls in Homozygosity Mapping
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Pitfalls in Homozygosity Mapping

Miano, Maria G. ; Jacobson, Samuel G. ; Carothers, Andrew ; Hanson, Isabel ; Teague, Peter ; Lovell, Jill ; Cideciyan, Artur V. ; Haider, Neena ; Stone, Edwin M. ; Sheffield, Val C. ; Wright, Alan F.

American journal of human genetics, 2000-11, Vol.67 (5), p.1348-1351 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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