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Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico; Rustad, Cecilie F.; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; [...]Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.Wiley, 2022
Published in: American Journal of Medical Genetics Part A
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Holliday, Elizabeth G; Maguire, Jane M; Evans, Tiffany-Jane; Koblar, Simon A; Jannes, Jim; Sturm, Jonathan W; Hankey, Graeme J; Baker, Ross; Golledge, Jonathan; Parsons, Mark W; Malik, Rainer; McEvoy, Mark; Biros, Erik; Lewis, Martin D; Lincz, Lisa F; Peel, Roseanne; Oldmeadow, Christopher; Smith, Wayne; Moscato, Pablo; Barlera, Simona; Bevan, Steve; Bis, Joshua C; Boerwinkle, Eric; Boncoraglio, Giorgio B; [...]Common variants at 6p21.1 are associated with large artery atherosclerotic strokeView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.Springer Science and Business Media LLC, 2012
Published in: Nature Genetics
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Zanobetti, Antonella; Ryan, Patrick H.; Coull, Brent; Brokamp, Cole; Datta, Soma; Blossom, Jeffrey; Lothrop, Nathan; Miller, Rachel L.; Beamer, Paloma I.; Visness, Cynthia M.; Andrews, Howard; Bacharier, Leonard B.; Hartert, Tina; Johnson, Christine C.; Ownby, Dennis; Khurana Hershey, Gurjit K.; Joseph, Christine; Yiqiang, Song; Mendonça, Eneida A.; Jackson, Daniel J.; Luttmann-Gibson, Heike; Zoratti, Edward M.; Wright, Anne L.; Martinez, Fernando D.; [...]Childhood Asthma Incidence, Early and Persistent Wheeze, and Neighborhood Socioeconomic Factors in the ECHO/CREW ConsortiumView onlineSchließen
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Published in: JAMA Pediatrics
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McGarry, Andrew; McDermott, Michael; Kieburtz, Karl; de Blieck, Elisabeth A.; Beal, Flint; Marder, Karen; Ross, Christopher; Shoulson, Ira; Gilbert, Peter; Mallonee, William M.; Guttman, Mark; Wojcieszek, Joanne; Kumar, Rajeev; LeDoux, Mark S.; Jenkins, Mary; Rosas, H. Diana; Nance, Martha; Biglan, Kevin; Como, Peter; Dubinsky, Richard M.; Shannon, Kathleen M.; O'Suilleabhain, Padraig; Chou, Kelvin; Walker, Francis; [...]A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington diseaseView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.Ovid Technologies (Wolters Kluwer Health), 2017
Published in: Neurology
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Penn, Matthew J; Baer, Robert; Walter, Donald; Pierce, Michael; Gelderman, Richard; Ursache, Andrei; Elmore, David; Mitchell, Adrianna; Kovac, Sarah; Hare, Honor; McKay, Myles; Jensen, Logan; Watson, Zachary; Conley, Mike; Powers, Lynn; Lazarova, Marianna; Wright, Joseph; Young, David; Isberner, Fred; Hart, C. Alexandra; Sheeley, N. R.; Penn, Debbie; Allen-Penn, Kate; Alder, Bruce; [...]Acceleration of Coronal Mass Ejection Plasma in the Low Corona as Measured by the Citizen CATE ExperimentView onlineSchließen
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Published in: Publications of the Astronomical Society of the Pacific
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Beal, M. Flint; Oakes, David; Shoulson, Ira; Henchcliffe, Claire; Galpern, Wendy R.; Haas, Richard; Juncos, Jorge L.; Nutt, John G.; Voss, Tiffini Smith; Ravina, Bernard; Shults, Clifford M.; Helles, Karen; Snively, Victoria; Lew, Mark F.; Griebner, Brian; Watts, Arthur; Gao, Shan; Pourcher, Emmanuelle; Bond, Louisette; Kompoliti, Katie; Agarwal, Pinky; Sia, Cherissa; Jog, Mandar; Cole, Linda; [...]A Randomized Clinical Trial of High-Dosage Coenzyme Q10 in Early Parkinson Disease : No Evidence of Benefit : No Evidence of BenefitView onlineSchließen
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Published in: JAMA Neurology
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Callaway, Edward M.; Dong, Hong-Wei; Ecker, Joseph R.; Hawrylycz, Michael J.; Huang, Z. Josh; Lein, Ed S.; Ngai, John; Osten, Pavel; Ren, Bing; Tolias, Andreas Savas; White, Owen; Zeng, Hongkui; Zhuang, Xiaowei; Ascoli, Giorgio A.; Behrens, M. Margarita; Chun, Jerold; Feng, Guoping; Gee, James C.; Ghosh, Satrajit S.; Halchenko, Yaroslav O.; Hertzano, Ronna; Lim, Byung Kook; Martone, Maryann E.; Ng, Lydia; [...]A multimodal cell census and atlas of the mammalian primary motor cortexView onlineSchließen
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Published in: Nature
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Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageView onlineSchließen
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Published in: Nature Communications
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Sarraj, Amrou; Hassan, Ameer E.; Abraham, Michael G.; Ortega-Gutierrez, Santiago; Kasner, Scott E.; Hussain, Muhammad Shazam; Chen, Michael; Churilov, Leonid; Johns, Hannah; Sitton, Clark W.; Yogendrakumar, Vignan; Ng, Felix C.; Pujara, Deep K.; Blackburn, Spiros; Sundararajan, Sophia; Hu, Yin C.; Herial, Nabeel A.; Arenillas, Juan F.; Tsai, Jenny P.; Budzik, Ronald F.; Hicks, William J.; Kozak, Osman; Yan, Bernard; Cordato, Dennis J.; [...]Endovascular Thrombectomy for Large Ischemic Stroke Across Ischemic Injury and Penumbra ProfilesView onlineSchließen
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Published in: JAMA
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Sarraj, Amrou; Hill, Michael D.; Hussain, M. Shazam; Abraham, Michael G.; Ortega-Gutierrez, Santiago; Chen, Michael; Kasner, Scott E.; Churilov, Leonid; Pujara, Deep K.; Johns, Hannah; Blackburn, Spiros; Sundararajan, Sophia; Hu, Yin C.; Herial, Nabeel A.; Budzik, Ronald F.; Hicks, William J.; Arenillas, Juan F.; Tsai, Jenny P.; Kozak, Osman; Cordato, Dennis J.; Hanel, Ricardo A.; Wu, Teddy Y.; Portela, Pere Cardona; Gandhi, Chirag D.; [...]Endovascular Thrombectomy Treatment Effect in Direct vs Transferred Patients With Large Ischemic Strokes : A Prespecified Analysis of the SELECT2 Trial : A Prespecified Analysis of the SELECT2 TrialView onlineSchließen
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Published in: JAMA Neurology
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Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; [...]The contribution of X-linked coding variation to severe developmental disordersView onlineSchließen
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Published in: Nature Communications
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Kaplanis, Joanna; Samocha, Kaitlin E.; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J.; Eberhardt, Ruth Y.; Gallone, Giuseppe; Lelieveld, Stefan H.; Martin, Hilary C.; McRae, Jeremy F.; Short, Patrick J.; Torene, Rebecca I.; de Boer, Elke; Danecek, Petr; Gardner, Eugene J.; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R. F.; Yeung, Alison; Yntema, Helger G.; Borras, Silvia; Clark, Caroline; [...]Evidence for 28 genetic disorders discovered by combining healthcare and research dataView onlineSchließen
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Published in: Nature
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Traylor, Matthew; Zhang, Cathy R.; Adib-Samii, Poneh; Devan, William J.; Parsons, Owen E.; Lanfranconi, Silvia; Gregory, Sarah; Cloonan, Lisa; Falcone, Guido J.; Radmanesh, Farid; Fitzpatrick, Kaitlin; Kanakis, Allison; Barrick, Thomas R.; Moynihan, Barry; Lewis, Cathryn M.; Boncoraglio, Giorgio B.; Lemmens, Robin; Thijs, Vincent; Sudlow, Cathie; Wardlaw, Joanna; Rothwell, Peter M.; Meschia, James F.; Worrall, Bradford B.; Levi, Christopher; [...]Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with strokeView onlineSchließen
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Published in: Neurology
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Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, I. Karen; Banka, Siddharth; Adam, Shelin; du Souich, Christèle; Elliott, Alison M.; [...]Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersView onlineSchließen
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Published in: The American Journal of Human Genetics
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Sadleir, Lynette G.; Mountier, Emily I.; Gill, Deepak; Davis, Suzanne; Joshi, Charuta; DeVile, Catherine; Kurian, Manju A.; Mandelstam, Simone; Wirrell, Elaine; Nickels, Katherine C.; Murali, Hema R.; Carvill, Gemma; Myers, Candace T.; Mefford, Heather C.; Scheffer, Ingrid E.; Bevan, A. Paul; Dixit, Abhijit; Pridham, Abigail; Tivey, Adrian R.; Sarkar, Ajoy; Donaldson, Alan; Fryer, Alan; Sifrim, Alejandro; Henderson, Alex; [...]Not all SCN1A epileptic encephalopathies are Dravet syndrome : Early profound Thr226Met phenotype : Early profound Thr226Met phenotypeView onlineSchließen
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Published in: Neurology
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Whitehouse, Tony; Hossain, Anower; Perkins, Gavin D.; Gordon, Anthony C.; Bion, Julian; Young, Duncan; McAuley, Danny; Singer, Mervyn; Lord, Janet; Gates, Simon; Veenith, Tonny; MacCallum, Niall S.; Yeung, Joyce; Innes, Richard; Welters, Ingeborg; Boota, Nafisa; Skilton, Emma; Ghuman, Belinder; Hill, Maddy; Regan, Scott E.; Mistry, Dipesh; Lall, Ranjit; Veenith, Tonny; Patel, Jaimin; [...]Landiolol and Organ Failure in Patients With Septic Shock : The STRESS-L Randomized Clinical Trial : The STRESS-L Randomized Clinical TrialView onlineSchließen
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Published in: JAMA
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Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageView onlineSchließen
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Published in: Nature Communications
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O’Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Víctor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; [...]Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyView onlineSchließen
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Published in: The American Journal of Human Genetics
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Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageView onlineSchließen
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Published in: Nature Communications
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Jain, Sanjay; Pei, Liming; Spraggins, Jeffrey M.; Angelo, Michael; Carson, James P.; Gehlenborg, Nils; Ginty, Fiona; Gonçalves, Joana P.; Hagood, James S.; Hickey, John W.; Kelleher, Neil L.; Laurent, Louise C.; Lin, Shin; Lin, Yiing; Liu, Huiping; Naba, Alexandra; Nakayasu, Ernesto S.; Qian, Wei-Jun; Radtke, Andrea; Robson, Paul; Stockwell, Brent R.; Van de Plas, Raf; Vlachos, Ioannis S.; Zhou, Mowei; [...]Author Correction: Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)View onlineSchließen
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Published in: Nature Cell Biology