skip to main content
Idioma:
previous page 1 Resultados 2 3 4 5 next page
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
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Manzini, M. Chiara ; Tambunan, Dimira E. ; Hill, R. Sean ; Yu, Tim W. ; Maynard, Thomas M. ; Heinzen, Erin L. ; Shianna, Kevin V. ; Stevens, Christine R. ; Partlow, Jennifer N. ; Barry, Brenda J. ; Rodriguez, Jacqueline ; Gupta, Vandana A. ; Al-Qudah, Abdel-Karim ; Eyaid, Wafaa M. ; Friedman, Jan M. ; Salih, Mustafa A. ; Clark, Robin ; Moroni, Isabella ; Mora, Marina ; Beggs, Alan H. ; Gabriel, Stacey B. ; Walsh, Christopher A.

American journal of human genetics, 2012-09, Vol.91 (3), p.541-547 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
12
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
Material Type:
Artigo 		Adicionar ao Meu Espaço

DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

Richard, Melissa A. ; Huan, Tianxiao ; Ligthart, Symen ; Gondalia, Rahul ; Jhun, Min A. ; Brody, Jennifer A. ; Irvin, Marguerite R. ; Montasser, May E. ; Jia, Yucheng ; Syme, Catriona ; Salfati, Elias L. ; Boerwinkle, Eric ; Guan, Weihua ; Mosley, Thomas H. ; Bressler, Jan ; Morrison, Alanna C. ; Liu, Chunyu ; Mendelson, Michael M. ; Uitterlinden, André G. ; van Meurs, Joyce B. ; ’t Hoen, Peter A.C. ; van Meurs, Joyce ; Isaacs, Aaron ; Franke, Lude ; Boomsma, Dorret I. ; Pool, René ; Hottenga, Jouke J. ; van Greevenbroek, Marleen M.J. ; Stehouwer, Coen D.A. ; Wijmenga, Cisca ; Zhernakova, Alexandra ; Slagboom, P. Eline ; Beekman, Marian ; Deelen, Joris ; van Heemst, Diana ; Veldink, Jan H. ; van den Berg, Leonard H. ; van Duijn, Cornelia M. ; Hofman, Albert ; Uitterlinden, André G. ; Jhamai, P. Mila ; Verbiest, Michael ; Suchiman, H. Eka D. ; Verkerk, Marijn ; van der Breggen, Ruud ; van Rooij, Jeroen ; Lakenberg, Nico ; Mei, Hailiang ; van Iterson, Maarten ; van Galen, Michiel ; Bot, Jan ; Nooren, Irene ; Moed, Matthijs ; Vermaat, Martijn ; Zhernakova, Dasha V. ; Luijk, René ; Bonder, Marc Jan ; van Dijk, Freerk ; Arindrarto, Wibowo ; Kielbasa, Szymon M. ; Swertz, Morris A. ; van Zwet, Erik W. ; Franco, Oscar H. ; Zhang, Guosheng ; Li, Yun ; Stewart, James D. ; Bis, Joshua C. ; Psaty, Bruce M. ; Chen, Yii-Der Ida ; Kardia, Sharon L.R. ; Zhao, Wei ; Absher, Devin ; Aslibekyan, Stella ; Starr, John M. ; McRae, Allan F. ; Schwartz, Joel D. ; Vokonas, Pantel S. ; Menni, Cristina ; Spector, Tim D. ; Shuldiner, Alan ; Damcott, Coleen M. ; Rotter, Jerome I. ; Palmas, Walter ; Liu, Yongmei ; Paus, Tomáš ; Horvath, Steve ; O’Connell, Jeffrey R. ; Guo, Xiuqing ; Pausova, Zdenka ; Assimes, Themistocles L. ; Sotoodehnia, Nona ; Smith, Jennifer A. ; Arnett, Donna K. ; Deary, Ian J. ; Baccarelli, Andrea A. ; Bell, Jordana T. ; Whitsel, Eric ; Dehghan, Abbas ; Levy, Daniel ; Fornage, Myriam

American journal of human genetics, 2017-12, Vol.101 (6), p.888-902 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
13
VPS35 Mutations in Parkinson Disease
VPS35 Mutations in Parkinson Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

VPS35 Mutations in Parkinson Disease

Vilariño-Güell, Carles ; Wider, Christian ; Ross, Owen A. ; Dachsel, Justus C. ; Kachergus, Jennifer M. ; Lincoln, Sarah J. ; Soto-Ortolaza, Alexandra I. ; Cobb, Stephanie A. ; Wilhoite, Greggory J. ; Bacon, Justin A. ; Behrouz, Bahareh ; Melrose, Heather L. ; Hentati, Emna ; Puschmann, Andreas ; Evans, Daniel M. ; Conibear, Elizabeth ; Wasserman, Wyeth W. ; Aasly, Jan O. ; Burkhard, Pierre R. ; Djaldetti, Ruth ; Ghika, Joseph ; Hentati, Faycal ; Krygowska-Wajs, Anna ; Lynch, Tim ; Melamed, Eldad ; Rajput, Alex ; Rajput, Ali H. ; Solida, Alessandra ; Wu, Ruey-Meei ; Uitti, Ryan J. ; Wszolek, Zbigniew K. ; Vingerhoets, François ; Farrer, Matthew J.

American journal of human genetics, 2011-07, Vol.89 (1), p.162-167 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
14
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B. ; Rodenburg, Richard J. ; van der Knaap, Marjo S. ; Smeitink, Jan A.M. ; Chrzanowska-Lightowlers, Zofia M. ; Shoubridge, Eric A.

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
15
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Material Type:
Artigo 		Adicionar ao Meu Espaço

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

Tucker, Tracy ; Marra, Marco ; Friedman, Jan M.

American journal of human genetics, 2009-08, Vol.85 (2), p.142-154 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
16
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Faucett, W. Andrew ; Feuk, Lars ; Friedman, Jan M. ; Hamosh, Ada ; Jackson, Laird ; Kaminsky, Erin B. ; Kok, Klaas ; Krantz, Ian D. ; Kuhn, Robert M. ; Lee, Charles ; Ostell, James M. ; Rosenberg, Carla ; Scherer, Stephen W. ; Spinner, Nancy B. ; Stavropoulos, Dimitri J. ; Tepperberg, James H. ; Thorland, Erik C. ; Vermeesch, Joris R. ; Waggoner, Darrel J. ; Watson, Michael S. ; Martin, Christa Lese ; Ledbetter, David H.

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
17
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P. ; Lambert, Jean-Charles ; Rasi, Chiara ; Giedraitis, Vilmantas ; Davies, Hanna ; Grenier-Boley, Benjamin ; Lindgren, Cecilia M. ; Campion, Dominique ; Dufouil, Carole ; Pasquier, Florence ; Amouyel, Philippe ; Lannfelt, Lars ; Ingelsson, Martin ; Kilander, Lena ; Lind, Lars ; Forsberg, Lars A.

American journal of human genetics, 2016-06, Vol.98 (6), p.1208-1219 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
18
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Saada, Ann ; Vogel, Rutger O. ; Hoefs, Saskia J. ; van den Brand, Mariël A. ; Wessels, Hans J. ; Willems, Peter H. ; Venselaar, Hanka ; Shaag, Avraham ; Barghuti, Flora ; Reish, Orit ; Shohat, Mordechai ; Huynen, Martijn A. ; Smeitink, Jan A.M. ; van den Heuvel, Lambert P. ; Nijtmans, Leo G.

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
19
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Material Type:
Artigo 		Adicionar ao Meu Espaço

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina ; Vona, Barbara ; Pagnamenta, Alistair T. ; Maroofian, Reza ; Beetz, Christian ; van Duyvenvoorde, Hermine ; Dentici, Maria Lisa ; Lauffer, Peter ; Vallian, Sadeq ; Ciolfi, Andrea ; Pizzi, Simone ; Bauer, Peter ; Grüning, Nana-Maria ; Bellacchio, Emanuele ; Del Fattore, Andrea ; Petrini, Stefania ; Shaheen, Ranad ; Tiosano, Dov ; Halloun, Rana ; Pode-Shakked, Ben ; Albayrak, Hatice Mutlu ; Işık, Emregül ; Wit, Jan M. ; Dittrich, Marcus ; Freire, Bruna L. ; Bertola, Debora R. ; Jorge, Alexander A.L. ; Barel, Ortal ; Sabir, Ataf H. ; Al Tenaiji, Amal M.J. ; Taji, Sulaima M. ; Al-Sannaa, Nouriya ; Al-Abdulwahed, Hind ; Digilio, Maria Cristina ; Irving, Melita ; Anikster, Yair ; Bhavani, Gandham S.L. ; Girisha, Katta M. ; Haaf, Thomas ; Taylor, Jenny C. ; Dallapiccola, Bruno ; Alkuraya, Fowzan S. ; Yang, Ruey-Bing ; Tartaglia, Marco

American journal of human genetics, 2021-01, Vol.108 (1), p.115-133 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
20
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

Denier, C. ; Goutagny, S. ; Labauge, P. ; Krivosic, V. ; Arnoult, M ; Cousin, A. ; Benabid, A.L. ; Comoy, J. ; Frerebeau, P. ; Gilbert, B. ; Houtteville, J.P. ; Jan, M. ; Lapierre, F. ; Loiseau, H. ; Menei, P. ; Mercier, P. ; Moreau, J.J. ; Nivelon-Chevallier, A. ; Parker, F. ; Redondo, A.M. ; Scarabin, J.M. ; Tremoulet, M. ; Zerah, M. ; Maciazek, J. ; Tournier-Lasserve, E.

American journal of human genetics, 2004-02, Vol.74 (2), p.326-337 [Periódico revisado por pares]

Chicago, IL: 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.   

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (241)
  2. Resenhas  (1)
  3. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1994  (13)
  2. 1994Até2000  (46)
  3. 2001Até2007  (51)
  4. 2008Até2015  (68)
  5. Após 2015  (65)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Senderek, J
  2. Esquivel, E
  3. Schöneborn, S
  4. Sweeney, W
  5. Hou, X

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.