skip to main content
Idioma:
previous page 1 Resultados 2 3 4 5 next page
Mostrar Somente
Refinado por: Nome da Publicação: American Journal Of Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
11
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Material Type:
Artigo 		Adicionar ao Meu Espaço

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura ; Danecek, Petr ; Ferla, Matteo P. ; Samocha, Kaitlin E. ; Kaplanis, Joanna ; Gardner, Eugene J. ; Eberhardt, Ruth Y. ; Chao, Katherine R. ; Karczewski, Konrad J. ; Morales, Joannella ; Gallone, Giuseppe ; Balasubramanian, Meena ; Banka, Siddharth ; Gompertz, Lianne ; Kerr, Bronwyn ; Kirby, Amelia ; Lynch, Sally A. ; Morton, Jenny E.V. ; Pinz, Hailey ; Sansbury, Francis H. ; Stewart, Helen ; Zuccarelli, Britton D. ; Cook, Stuart A. ; Taylor, Jenny C. ; Juusola, Jane ; Retterer, Kyle ; Firth, Helen V. ; Hurles, Matthew E. ; Lara-Pezzi, Enrique ; Barton, Paul J.R. ; Whiffin, Nicola

American journal of human genetics, 2021-06, Vol.108 (6), p.1083-1094 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
12
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)

Mykytyn, Kirk ; Nishimura, Darryl Y. ; Searby, Charles C. ; Beck, Gretel ; Bugge, Kevin ; Haines, Heidi L. ; Cornier, Alberto S. ; Cox, Gerald F. ; Fulton, Anne B. ; Carmi, Rivka ; Iannaccone, Alessandro ; Jacobson, Samuel G. ; Weleber, Richard G. ; Wright, Alan F. ; Riise, Ruth ; Raoul Hennekam, C.M. ; Lüleci, Güven ; Berker-Karauzum, Sibel ; Biesecker, Leslie G. ; Stone, Edwin M. ; Sheffield, Val C.

American journal of human genetics, 2003-02, Vol.72 (2), p.429-437 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
13
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
14
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
15
Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
16
The phenotypic difference discards sib-pair QTL linkage information
The phenotypic difference discards sib-pair QTL linkage information
Material Type:
Artigo 		Adicionar ao Meu Espaço

The phenotypic difference discards sib-pair QTL linkage information

Wright, F A

American journal of human genetics, 1997-03, Vol.60 (3), p.740-742 [Periódico revisado por pares]

United States

Texto completo disponível

Citações Citado por
17
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
18
Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions
Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions

Miller, Brian J. ; Wang, Daolong ; Krahe, Ralf ; Wright, Fred A.

American journal of human genetics, 2003-10, Vol.73 (4), p.748-767 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
19
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
20
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Material Type:
Artigo 		Adicionar ao Meu Espaço

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Aitken, Stuart ; McRae, Jeremy ; Kini, Usha ; Parker, Michael J. ; Joss, Shelagh ; Scott, Richard H. ; Hurles, Matthew E. ; FitzPatrick, David R. ; Morley, K.I. ; Al-Turki, S. ; Ambridge, K. ; Barrett, D.M. ; Bayzetinova, T. ; Krishnappa, N. ; Mason, L.E. ; Middleton, A. ; Prigmore, E. ; Tivey, A.R. ; Akawi, N. ; Andrews, R. ; Armstrong, R. ; Balasubramanian, M. ; Banerjee, R. ; Baty, D. ; Bernhard, B. ; Blair, E. ; Bourn, D. ; Brady, A. ; Brewer, C. ; Burn, J. ; Connell, F. ; Cooper, N. ; Cross, G. ; Dixit, A. ; Ellis, P. ; Fendick, T. ; Fisher, R. ; Greenhalgh, L. ; Hawkins, R. ; Hobson, E. ; Holden, S. ; Holder, S. ; Hurst, J. ; Ingram, S. ; Jarvis, J. ; Johnson, D. ; Joss, S. ; Kaemba, B. ; Kirby, G. ; Kraus, A. ; Kumar, D. ; Lim, D. ; Lowther, G. ; Marks, K. ; Maye, U. ; McConnell, V. ; McGowan, R. ; McMullan, D.J. ; Metcalfe, K. ; Mohammed, S. ; Nevitt, L. ; Newbury-Ecob, R. ; Ogilvie, C. ; Paterson, J. ; Payne, S. ; Porteous, D. ; Raymond, L. ; Roberts, E. ; Roberts, G. ; Roberts, P. ; Ross, A. ; Saggar, A. ; Sandford, R. ; Schweiger, S. ; Scott, C. ; Selby, A. ; Seller, A. ; Shears, D. ; Singzon, R. ; Smith, B. ; Sneddon, L. ; Stewart, F. ; Stewart, H. ; Suri, M. ; Swaminathan, G.J. ; Sweeney, E. ; Tolmie, J. ; Turner, C. ; Tysoe, C. ; Vasudevan, P. ; Vogt, J. ; Waters, J. ; Wellesley, D. ; Widaa, S. ; Wilcox, S. ; Williams, N. ; Yang, F. ; Wright, C.F. ; Barrett, J.C. ; Hurles, M.E.

American journal of human genetics, 2019-11, Vol.105 (5), p.933-946 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
previous page 1 Resultados 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (67)
  2. Revistas revisadas por pares (67)

Data de Publicação 

De até
Refinar
  1. Antes de1994  (9)
  2. 1994Até2000  (11)
  3. 2001Até2008  (12)
  4. 2009Até2015  (14)
  5. Após 2015  (24)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Ricci, E
  2. Trevisan, C
  3. Greco, F
  4. Berardinelli, A
  5. Angelini, C

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.