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Recommendations for whole genome sequencing in diagnostics for rare diseases
Recommendations for whole genome sequencing in diagnostics for rare diseases
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Recommendations for whole genome sequencing in diagnostics for rare diseases

Souche, Erika ; Beltran, Sergi ; Brosens, Erwin ; Belmont, John W ; Fossum, Magdalena ; Riess, Olaf ; Gilissen, Christian ; Ardeshirdavani, Amin ; Houge, Gunnar ; van Gijn, Marielle ; Clayton-Smith, Jill ; Synofzik, Matthis ; de Leeuw, Nicole ; Deans, Zandra C ; Dincer, Yasemin ; Eck, Sebastian H ; van der Crabben, Saskia ; Balasubramanian, Meena ; Graessner, Holm ; Sturm, Marc ; Firth, Helen ; Ferlini, Alessandra ; Nabbout, Rima ; De Baere, Elfride ; Liehr, Thomas ; Macek, Milan ; Matthijs, Gert ; Scheffer, Hans ; Bauer, Peter ; Yntema, Helger G ; Weiss, Marjan M

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, Wouter ; Bakker, Mark K ; van Vugt, Joke J F A ; de Klein, Niek ; Westra, Harm-Jan ; Bakker, Olivier B ; Deelen, Patrick ; Hannon, Eilis ; Dolzhenko, Egor ; Gawor, Klara ; Westeneng, Henk-Jan ; Kooyman, Maarten ; Heverin, Mark ; Shatunov, Aleksey ; Ticozzi, Nicola ; Cooper-Knock, Johnathan ; Gromicho, Marta ; Chandran, Siddharthan ; Pal, Suvankar ; Shaw, Pamela J ; Hardy, John ; Orrell, Richard W ; Meyer, Thomas ; Lauria, Giuseppe ; Cereda, Cristina ; Sproviero, Daisy ; D'Alfonso, Sandra ; Sorarù, Gianni ; Siciliano, Gabriele ; Filosto, Massimiliano ; Padovani, Alessandro ; Calvo, Andrea ; Canosa, Antonio ; Grassano, Maurizio ; Beghi, Ettore ; Logroscino, Giancarlo ; Nefussy, Beatrice ; Lerner, Yossef ; Gotkine, Marc ; Baloh, Robert H ; Bell, Shaughn ; Vourc'h, Patrick ; Couratier, Philippe ; Salachas, François ; Assialioui, Abdelilah ; Dion, Patrick A ; Ross, Jay P ; Brenner, David ; Freischmidt, Axel ; Bensimon, Gilbert ; Brice, Alexis ; Saker-Delye, Safa ; Wood, Nicholas W ; Topp, Simon ; Lieb, Wolfgang ; Franke, Andre ; Ripke, Stephan ; Braun, Alice ; Hofman, Albert ; Cichon, Sven ; Nöthen, Markus M ; Traynor, Bryan J ; Singleton, Andrew B ; Mitne Neto, Miguel ; Ophoff, Roel A ; Wiedau-Pazos, Martina ; Lomen-Hoerth, Catherine ; Grosskreutz, Julian ; Gaur, Nayana ; Ilse, Benjamin ; Stubendorff, Beatrice ; Hübner, Christian A ; Graff, Caroline ; Fominykh, Vera ; Demeshonok, Vera ; Rogelj, Boris ; Zidar, Janez ; Ravnik-Glavač, Metka ; Drory, Vivian ; Povedano, Monica ; Blair, Ian P ; Kiernan, Matthew C ; McCombe, Pamela A ; Pamphlett, Roger ; Steyn, Frederik J ; de Carvalho, Mamede ; Petri, Susanne ; Weber, Markus ; Brown, Jr, Robert H ; Shaw, Christopher E ; Andersen, Peter M ; Groen, Ewout J N ; Garton, Fleur C ; Mill, Jonathan ; Hardiman, Orla ; Tsai, Ellen ; Runz, Heiko ; Al-Chalabi, Ammar ; van den Berg, Leonard H ; Veldink, Jan H

Nature genetics, 2021-12, Vol.53 (12), p.1636-1648 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking
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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, Roland F R ; Scotton, Chiara ; Zhang, Jianguo ; Passarelli, Chiara ; Ortiz-Bonnin, Beatriz ; Simrick, Subreena ; Schwerte, Thorsten ; Poon, Kar-Lai ; Fang, Mingyan ; Rinné, Susanne ; Froese, Alexander ; Nikolaev, Viacheslav O ; Grunert, Christiane ; Müller, Thomas ; Tasca, Giorgio ; Sarathchandra, Padmini ; Drago, Fabrizio ; Dallapiccola, Bruno ; Rapezzi, Claudio ; Arbustini, Eloisa ; Di Raimo, Francesca Romana ; Neri, Marcella ; Selvatici, Rita ; Gualandi, Francesca ; Fattori, Fabiana ; Pietrangelo, Antonello ; Li, Wenyan ; Jiang, Hui ; Xu, Xun ; Bertini, Enrico ; Decher, Niels ; Wang, Jun ; Brand, Thomas ; Ferlini, Alessandra

The Journal of clinical investigation, 2016-01, Vol.126 (1), p.239-253 [Periódico revisado por pares]

United States

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4
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Material Type:
Artigo 		Adicionar ao Meu Espaço

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, Wouter ; Bakker, Mark K ; van Vugt, Joke J F A ; de Klein, Niek ; Westra, Harm-Jan ; Bakker, Olivier B ; Deelen, Patrick ; Hannon, Eilis ; Dolzhenko, Egor ; Gawor, Klara ; Westeneng, Henk-Jan ; Kooyman, Maarten ; Heverin, Mark ; Shatunov, Aleksey ; Ticozzi, Nicola ; Cooper-Knock, Johnathan ; Gromicho, Marta ; Chandran, Siddharthan ; Pal, Suvankar ; Shaw, Pamela J ; Hardy, John ; Orrell, Richard W ; Meyer, Thomas ; Lauria, Giuseppe ; Cereda, Cristina ; Sproviero, Daisy ; D'Alfonso, Sandra ; Sorarù, Gianni ; Siciliano, Gabriele ; Filosto, Massimiliano ; Padovani, Alessandro ; Calvo, Andrea ; Canosa, Antonio ; Grassano, Maurizio ; Beghi, Ettore ; Logroscino, Giancarlo ; Nefussy, Beatrice ; Lerner, Yossef ; Gotkine, Marc ; Baloh, Robert H ; Bell, Shaughn ; Vourc'h, Patrick ; Couratier, Philippe ; Salachas, François ; Assialioui, Abdelilah ; Dion, Patrick A ; Ross, Jay P ; Brenner, David ; Freischmidt, Axel ; Bensimon, Gilbert ; Brice, Alexis ; Saker-Delye, Safa ; Wood, Nicholas W ; Topp, Simon ; Lieb, Wolfgang ; Franke, Andre ; Ripke, Stephan ; Braun, Alice ; Hofman, Albert ; Cichon, Sven ; Nöthen, Markus M ; Traynor, Bryan J ; Singleton, Andrew B ; Mitne Neto, Miguel ; Ophoff, Roel A ; Wiedau-Pazos, Martina ; Lomen-Hoerth, Catherine ; Grosskreutz, Julian ; Gaur, Nayana ; Ilse, Benjamin ; Stubendorff, Beatrice ; Hübner, Christian A ; Graff, Caroline ; Fominykh, Vera ; Demeshonok, Vera ; Rogelj, Boris ; Zidar, Janez ; Ravnik-Glavač, Metka ; Drory, Vivian ; Povedano, Monica ; Blair, Ian P ; Kiernan, Matthew C ; McCombe, Pamela A ; Pamphlett, Roger ; Steyn, Frederik J ; de Carvalho, Mamede ; Petri, Susanne ; Weber, Markus ; Brown, Jr, Robert H ; Shaw, Christopher E ; Andersen, Peter M ; Groen, Ewout J N ; Garton, Fleur C ; Mill, Jonathan ; Hardiman, Orla ; Tsai, Ellen ; Runz, Heiko ; Al-Chalabi, Ammar ; van den Berg, Leonard H ; Veldink, Jan H

Nature genetics, 2022-03, Vol.54 (3), p.361-361 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey ; Thomas, Sophie ; Ben-Zeev, Bruria ; Bertini, Enrico ; Boltshauser, Eugen ; Chaouch, Malika ; Cilio, Maria Roberta ; de Jong, Mirjam M ; Kayserili, Hulya ; Ogur, Gonul ; Poretti, Andrea ; Signorini, Sabrina ; Uziel, Graziella ; Zaki, Maha S ; Johnson, Colin ; Attié-Bitach, Tania ; Gleeson, Joseph G ; Valente, Enza Maria

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, Miriam ; Brancati, Francesco ; Mougou-Zerelli, Soumaya ; Mazzotta, Annalisa ; Thomas, Sophie ; Elkhartoufi, Nadia ; Travaglini, Lorena ; Gomes, Céline ; Luigi Ardissino, Gian ; Bertini, Enrico ; Boltshauser, Eugen ; Castorina, Pierangela ; D'Arrigo, Stefano ; Fischetto, Rita ; Leroy, Brigitte ; Loget, Philippe ; Bonnière, Maryse ; Starck, Lena ; Tantau, Julia ; Gentilin, Barbara ; Majore, Silvia ; Swistun, Dominika ; Flori, Elizabeth ; Lalatta, Faustina ; Pantaleoni, Chiara ; Penzien, Johannes ; Grammatico, Paola ; Dallapiccola, Bruno ; Gleeson, Joseph G ; Attie-Bitach, Tania ; Valente, Enza Maria

Human mutation, 2010-05, Vol.31 (5), p.E1319-E1331 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational
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Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

McCormack, Pauline ; Woods, Simon ; Aartsma-Rus, Annemieke ; Hagger, Lynn ; Herczegfalvi, Agnes ; Heslop, Emma ; Irwin, Joseph ; Kirschner, Janbernd ; Moeschen, Patrick ; Muntoni, Francesco ; Ouillade, Marie-Christine ; Rahbek, Jes ; Rehmann-Sutter, Christoph ; Rouault, Francoise ; Sejersen, Thomas ; Vroom, Elizabeth ; Straub, Volker ; Bushby, Kate ; Ferlini, Alessandra

PLoS currents, 2013-01, Vol.5

United States: Public Library of Science

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