skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Female remover assunto: Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Bis, Joshua C ; Jian, Xueqiu ; Kunkle, Brian W ; Chen, Yuning ; Hamilton-Nelson, Kara L ; Bush, William S ; Salerno, William J ; Lancour, Daniel ; Ma, Yiyi ; Renton, Alan E ; Marcora, Edoardo ; Farrell, John J ; Zhao, Yi ; Qu, Liming ; Ahmad, Shahzad ; Amin, Najaf ; Amouyel, Philippe ; Beecham, Gary W ; Below, Jennifer E ; Campion, Dominique ; Cantwell, Laura ; Charbonnier, Camille ; Chung, Jaeyoon ; Crane, Paul K ; Cruchaga, Carlos ; Cupples, L Adrienne ; Dartigues, Jean-François ; Debette, Stéphanie ; Deleuze, Jean-François ; Fulton, Lucinda ; Gabriel, Stacey B ; Genin, Emmanuelle ; Gibbs, Richard A ; Goate, Alison ; Grenier-Boley, Benjamin ; Gupta, Namrata ; Haines, Jonathan L ; Havulinna, Aki S ; Helisalmi, Seppo ; Hiltunen, Mikko ; Howrigan, Daniel P ; Ikram, M Arfan ; Kaprio, Jaakko ; Konrad, Jan ; Kuzma, Amanda ; Lander, Eric S ; Lathrop, Mark ; Lehtimäki, Terho ; Lin, Honghuang ; Mattila, Kari ; Mayeux, Richard ; Muzny, Donna M ; Nasser, Waleed ; Neale, Benjamin ; Nho, Kwangsik ; Nicolas, Gaël ; Patel, Devanshi ; Pericak-Vance, Margaret A ; Perola, Markus ; Psaty, Bruce M ; Quenez, Olivier ; Rajabli, Farid ; Redon, Richard ; Reitz, Christiane ; Remes, Anne M ; Salomaa, Veikko ; Sarnowski, Chloe ; Schmidt, Helena ; Schmidt, Michael ; Schmidt, Reinhold ; Soininen, Hilkka ; Thornton, Timothy A ; Tosto, Giuseppe ; Tzourio, Christophe ; van der Lee, Sven J ; van Duijn, Cornelia M ; Valladares, Otto ; Vardarajan, Badri ; Wang, Li-San ; Wang, Weixin ; Wijsman, Ellen ; Wilson, Richard K ; Witten, Daniela ; Worley, Kim C ; Zhang, Xiaoling ; Bellenguez, Celine ; Lambert, Jean-Charles ; Kurki, Mitja I ; Palotie, Aarno ; Daly, Mark ; Boerwinkle, Eric ; Lunetta, Kathryn L ; Destefano, Anita L ; Dupuis, Josée ; Martin, Eden R ; Schellenberg, Gerard D ; Seshadri, Sudha ; Naj, Adam C ; Fornage, Myriam ; Farrer, Lindsay A

Molecular psychiatry, 2020-08, Vol.25 (8), p.1859-1875 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
2
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
Material Type:
Artigo 		Adicionar ao Meu Espaço

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Auguste, Yasmina ; Delague, Valérie ; Desvignes, Jean-Pierre ; Longepied, Guy ; Gnisci, Audrey ; Besnier, Pierre ; Levy, Nicolas ; Beroud, Christophe ; Megarbane, André ; Metzler-Guillemain, Catherine ; Mitchell, Michael J.

American journal of human genetics, 2018-09, Vol.103 (3), p.413-420 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
3
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Sykiotis, Gerasimos P. ; Plummer, Lacey ; Hughes, Virginia A. ; Au, Margaret ; Durrani, Sadia ; Nayak-Young, Sadhana ; Dwyer, Andrew A. ; Quinton, Richard ; Hall, Janet E. ; Gusella, James F. ; Seminara, Stephanie B. ; Crowley, William F. ; Pitteloud, Nelly ; Donahoe, Patricia K.

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144 [Periódico revisado por pares]

United States: National Academy of Sciences

Texto completo disponível

Citações Citado por
4
The zebrafish reference genome sequence and its relationship to the human genome
The zebrafish reference genome sequence and its relationship to the human genome
Material Type:
Artigo 		Adicionar ao Meu Espaço

The zebrafish reference genome sequence and its relationship to the human genome

Clark, Matthew D ; Torroja, Carlos F ; Torrance, James ; Humphray, Sean ; McLaren, Karen ; Matthews, Lucy ; McLaren, Stuart ; Sealy, Ian ; Caccamo, Mario ; Churcher, Carol ; Rauch, Gerd-Jörg ; White, Simon ; Quintais, Leonor T ; Guerra-Assunção, José A ; Gu, Yong ; Yen, Jennifer ; Vogel, Jan-Hinnerk ; Redmond, Seth ; Banerjee, Ruby ; Chi, Jianxiang ; Fu, Beiyuan ; Langley, Elizabeth ; Maguire, Sean F ; Kenyon, Emma ; Sehra, Harminder ; Trevanion, Stephen ; Quail, Mike ; Willey, Dave ; Burton, John ; Sims, Sarah ; McLay, Kirsten ; Plumb, Bob ; Davis, Joy ; Clark, Richard ; Riddle, Clare ; Elliot, David ; Eliott, David ; Harden, Glenn ; Mortimore, Beverley ; Mortimer, Beverly ; Heath, Paul ; Tracey, Alan ; Corby, Nicole ; Dunn, Matthew ; Smith, Michelle ; Howden, Philip ; Barker, Nicholas ; Harley, Joanna ; Holt, Karen ; Panagiotidis, Georgios ; Henderson, Carl ; Gordon, Daria ; Wright, Deborah ; Dyer, Lauren ; Leung, Kenric ; Gilderthorp, Ruth ; Griffiths, Coline ; Manthravadi, Deepa ; Murnane, Clare ; Humphries, Matthew ; Sycamore, Neil ; Barker, Darren ; Wallis, Justene ; Babbage, Anne ; Hammond, Sian ; Martin, Sancha ; Matthews, Nicholas ; Woodmansey, Rebecca ; Cooper, James D ; Tromans, Anthony ; Skuce, Carl ; Andrews, Robert ; Garnett, Jane ; Fosker, Nigel ; Hall, Rebekah ; Garner, Patrick ; Kelly, Daniel ; Bird, Christine ; Gehring, Ines ; Berger, Andrea ; Dooley, Christopher M ; Eser, Cigdem ; Geiger, Horst ; Geisler, Maria ; Kirn, Anette ; Konantz, Judith ; Oberländer, Martina ; Raddatz, Günter ; Osoegawa, Kazutoyo ; Zhu, Baoli ; Rapp, Amanda ; Widaa, Sara ; Schuster, Stephan C ; Carter, Nigel P ; Ning, Zemin ; Enright, Anton ; Lee, Charles ; de Jong, Pieter J ; Hubbard, Tim J P ; Roest Crollius, Hugues

Nature (London), 2013-04, Vol.496 (7446), p.498-503 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
5
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Ragge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre ; Odent, Sylvie ; Giurgea, Irina ; Cogné, Benjamin ; Deb, Wallid ; Vincent, Marie ; Le Gall, Jessica ; Morton, Jenny ; Lim, Derek ; Le Meur, Guylène ; Zazo Seco, Celia ; Zafeiropoulou, Dimitra ; Bax, Dorine ; Zwijnenburg, Petra ; Arteche, Anara ; Swafiri, Saoud Tahsin ; Cleaver, Ruth ; McEntagart, Meriel ; Kini, Usha ; Newman, William ; Ayuso, Carmen ; Corton, Marta ; Herenger, Yvan ; Jeanne, Médéric ; Calvas, Patrick ; Chassaing, Nicolas

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
6
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

HILTON, Emma ; JOHNSTON, Jennifer ; KOSAKI, Kenjiro ; MANOUVRIER, Sylvie ; BOUTE, Odile ; PERVEEN, Rahat ; LAW, Caroline ; MOORE, Anthony ; FITZPATRICK, David ; LEMKE, Johannes ; FELLMANN, Florence ; DEBRAY, François-Guillaume ; WHALEN, Sandra ; DASTOT-LE-MOAL, Florence ; GERARD, Marion ; MARTIN, Josiane ; BITOUN, Pierre ; GOOSSENS, Michel ; VERLOES, Alain ; SCHINZEL, Albert ; BARTHOLDI, Deborah ; BARDAKJIAN, Tanya ; HAY, Beverly ; OKAMOTO, Nobuhiko ; JENNY, Kim ; JOHNSTON, Kathreen ; LYONS, Michael ; BELMONT, John W ; BIESECKER, Leslie G ; GIURGEA, Irina ; BLACK, Graeme ; HATSUKAWA, Yoshikazu ; NISHIO, Juntaro ; KOHARA, Hiroshi ; HIRANO, Yoshiko ; MIZUNO, Seiji ; TORII, Chiharu

European journal of human genetics : EJHG, 2009-10, Vol.17 (10), p.1325-1335 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Nesin, Vasyl ; Wiley, Graham ; Kousi, Maria ; Ong, E-Ching ; Lehmann, Thomas ; Nicholl, David J. ; Suri, Mohnish ; Shahrizaila, Nortina ; Katsanis, Nicholas ; Gaffney, Patrick M. ; Wierenga, Klaas J. ; Tsiokas, Leonidas

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202 [Periódico revisado por pares]

United States: National Academy of Sciences

Texto completo disponível

Citações Citado por
8
Low copy number of the salivary amylase gene predisposes to obesity
Low copy number of the salivary amylase gene predisposes to obesity
Material Type:
Artigo 		Adicionar ao Meu Espaço

Low copy number of the salivary amylase gene predisposes to obesity

Falchi, Mario ; El-Sayed Moustafa, Julia Sarah ; Takousis, Petros ; Pesce, Francesco ; Bonnefond, Amélie ; Andersson-Assarsson, Johanna C ; Sudmant, Peter H ; Dorajoo, Rajkumar ; Al-Shafai, Mashael Nedham ; Bottolo, Leonardo ; Ozdemir, Erdal ; So, Hon-Cheong ; Davies, Robert W ; Patrice, Alexandre ; Dent, Robert ; Mangino, Massimo ; Hysi, Pirro G ; Dechaume, Aurélie ; Huyvaert, Marlène ; Skinner, Jane ; Pigeyre, Marie ; Caiazzo, Robert ; Raverdy, Violeta ; Vaillant, Emmanuel ; Field, Sarah ; Balkau, Beverley ; Marre, Michel ; Visvikis-Siest, Sophie ; Weill, Jacques ; Poulain-Godefroy, Odile ; Jacobson, Peter ; Sjostrom, Lars ; Hammond, Christopher J ; Deloukas, Panos ; Sham, Pak Chung ; McPherson, Ruth ; Lee, Jeannette ; Tai, E Shyong ; Sladek, Robert ; Carlsson, Lena M S ; Walley, Andrew ; Eichler, Evan E ; Pattou, Francois ; Spector, Timothy D ; Froguel, Philippe

Nature genetics, 2014-05, Vol.46 (5), p.492-497 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
large-scale candidate gene association study of age at menarche and age at natural menopause
large-scale candidate gene association study of age at menarche and age at natural menopause
Material Type:
Artigo 		Adicionar ao Meu Espaço

large-scale candidate gene association study of age at menarche and age at natural menopause

He, Chunyan ; Kraft, Peter ; Chasman, Daniel I ; Buring, Julie E ; Chen, Constance ; Hankinson, Susan E ; Paré, Guillaume ; Chanock, Stephen ; Ridker, Paul M ; Hunter, David J

Human genetics, 2010-11, Vol.128 (5), p.515-527 [Periódico revisado por pares]

Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag

Texto completo disponível

Citações Citado por
10
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
Material Type:
Artigo 		Adicionar ao Meu Espaço

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

Paolini, Nahuel A. ; Attwood, Martin ; Sondalle, Samuel B. ; Vieira, Carolina Marques dos Santos ; van Adrichem, Anita M. ; di Summa, Franca M. ; O’Donohue, Marie-Françoise ; Gleizes, Pierre-Emmanuel ; Rachuri, Swaksha ; Briggs, Joseph W. ; Fischer, Roman ; Ratcliffe, Peter J. ; Wlodarski, Marcin W. ; Houtkooper, Riekelt H. ; von Lindern, Marieke ; Kuijpers, Taco W. ; Dinman, Jonathan D. ; Baserga, Susan J. ; Cockman, Matthew E. ; MacInnes, Alyson W.

American journal of human genetics, 2017-03, Vol.100 (3), p.506-522 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (17.035)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (17.341)
  2. magazinearticle  (15)
  3. Livros  (1)
  4. Book Chapters  (1)
  5. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1972  (61)
  2. 1972Até1984  (216)
  3. 1985Até1997  (369)
  4. 1998Até2011  (4.992)
  5. Após 2011  (11.722)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (17.354)
  2. Japonês  (1.961)
  3. Francês  (15)
  4. Português  (11)
  5. Russo  (11)
  6. Norueguês  (8)
  7. Alemão  (1)
  8. Espanhol  (1)
  9. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.