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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna ; Thouta, Samrat ; Mancini, Grazia M.S. ; Naidu, Sakkubai ; van Slegtenhorst, Marjon ; McWalter, Kirsty ; Person, Richard ; Mwenifumbo, Jill ; Salvarinova, Ramona ; Adam, Shelin ; du Souich, Christèle ; Elliott, Alison M. ; Lehman, Anna ; Mwenifumbo, Jill ; Nelson, Tanya N. ; van Karnebeek, Clara ; Friedman, Jan M. ; Boelman, Cyrus ; Bolbocean, Corneliu ; Buerki, Sarah E. ; Candido, Tara ; Eydoux, Patrice ; Evans, Daniel M. ; Gibson, William ; Horvath, Gabriella ; Huh, Linda ; Sinclair, Graham ; Tarling, Tamsin ; Toyota, Eric B. ; Townsend, Katelin N. ; Van Allen, Margot I. ; Vercauteren, Suzanne ; Guella, Ilaria ; McKenzie, Marna B. ; Datta, Anita ; Connolly, Mary B. ; Kalkhoran, Somayeh Mojard ; Poburko, Damon ; Friedman, Jan M. ; Farrer, Matthew J. ; Demos, Michelle ; Desai, Sonal ; Claydon, Thomas

American journal of human genetics, 2017-07, Vol.101 (1), p.65-74 [Periódico revisado por pares]

United States: Elsevier Inc

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2
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R.M. ; Sistermans, Erik A. ; Macville, Merryn V.E. ; Stevens, Servi J.C. ; Bax, Caroline J. ; Bekker, Mireille N. ; Bilardo, Caterina M. ; Boon, Elles M.J. ; Boter, Marjan ; Diderich, Karin E.M. ; de Die-Smulders, Christine E.M. ; Duin, Leonie K. ; Faas, Brigitte H.W. ; Feenstra, Ilse ; Haak, Monique C. ; Hoffer, Mariëtte J.V. ; den Hollander, Nicolette S. ; Hollink, Iris H.I.M. ; Jehee, Fernanda S. ; Knapen, Maarten F.C.M. ; Kooper, Angelique J.A. ; van Langen, Irene M. ; Lichtenbelt, Klaske D. ; Linskens, Ingeborg H. ; van Maarle, Merel C. ; Oepkes, Dick ; Pieters, Mijntje J. ; Schuring-Blom, G. Heleen ; Sikkel, Esther ; Sikkema-Raddatz, Birgit ; Smeets, Dominique F.C.M. ; Srebniak, Malgorzata I. ; Suijkerbuijk, Ron F. ; Tan-Sindhunata, Gita M. ; van der Ven, A. Jeanine E.M. ; van Zelderen-Bhola, Shama L. ; Henneman, Lidewij ; Galjaard, Robert-Jan H. ; Van Opstal, Diane ; Weiss, Marjan M.

American journal of human genetics, 2019-12, Vol.105 (6), p.1091-1101 [Periódico revisado por pares]

United States: Elsevier Inc

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3
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

van der Knaap, Marjo S. ; van Berkel, Carola G.M. ; Herms, Jochen ; van Coster, Rudy ; Baethmann, Martina ; Naidu, Sakkubai ; Boltshauser, Eugen ; Willemsen, Michèl A.A.P. ; Plecko, Barbara ; Hoffmann, Georg F. ; Proud, Christopher G. ; Scheper, Gert C. ; Pronk, Jan C.

American journal of human genetics, 2003-11, Vol.73 (5), p.1199-1207 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
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ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility

Broeks, Annegien ; Urbanus, Jos H.M. ; Floore, Arno N. ; Dahler, Ellen C. ; Klijn, Jan G.M. ; Rutgers, Emiel J. Th ; Devilee, Peter ; Russell, Nicola S. ; van Leeuwen, Flora E. ; van't Veer, Laura J.

American journal of human genetics, 2000-02, Vol.66 (2), p.494-500 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, Cecilie ; Saunier, Sophie ; Oud, Machteld M. ; Fiskerstrand, Torunn ; Hoischen, Alexander ; Brackman, Damien ; Leh, Sabine M. ; Midtbø, Marit ; Filhol, Emilie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Gilissen, Christian ; Haugen, Olav H. ; Sanders, Jan-Stephan F. ; Stolte-Dijkstra, Irene ; Mans, Dorus A. ; Steenbergen, Eric J. ; Hamel, Ben C.J. ; Matignon, Marie ; Pfundt, Rolph ; Jeanpierre, Cécile ; Boman, Helge ; Rødahl, Eyvind ; Veltman, Joris A. ; Knappskog, Per M. ; Knoers, Nine V.A.M. ; Roepman, Ronald ; Arts, Heleen H.

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Huigsloot, Merei ; Nijtmans, Leo G. ; Szklarczyk, Radek ; Baars, Marieke J.H. ; van den Brand, Mariël A.M. ; HendriksFranssen, Marthe G.M. ; van den Heuvel, Lambertus P. ; Smeitink, Jan A.M. ; Huynen, Martijn A. ; Rodenburg, Richard J.T.

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
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Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Dam, Anika H.D.M. ; Koscinski, Isabelle ; Kremer, Jan A.M. ; Moutou, Céline ; Jaeger, Anne-Sophie ; Oudakker, Astrid R. ; Tournaye, Herman ; Charlet, Nicolas ; Lagier-Tourenne, Clotilde ; van Bokhoven, Hans ; Viville, Stéphane

American journal of human genetics, 2007-10, Vol.81 (4), p.813-820 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
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
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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

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9
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
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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

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10
VPS35 Mutations in Parkinson Disease
VPS35 Mutations in Parkinson Disease
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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

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