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An Integrated Framework for Risk Management and Population Health
by
Krewski, Daniel
,
Hogan, Victoria
,
Turner, Michelle C.
,
Zeman, Patricia L.
,
McDowell, Ian
,
Edwards, Nancy
,
Losos, Joseph
Published in
Human and ecological risk assessment
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
by
Helbig, Katherine L.
,
Lauerer, Robert J.
,
Bahr, Jacqueline C.
,
Souza, Ivana A.
,
Uysal, Betül
,
Gandini, Maria A.
,
Huang, Sun
,
Keren, Boris
,
Mignot, Cyril
,
Billette de Villemeur, Thierry
,
Nava, Caroline
,
Valence, Stéphanie
,
Buratti, Julien
,
Fagerberg, Christina R.
,
Soerensen, Kristina P.
,
Kamsteeg, Erik-Jan
,
Koolen, David A.
,
Gunning, Boudewijn
,
Schelhaas, H. Jurgen
,
Fox, Jordana
,
Bakhtiari, Somayeh
,
Jarrar, Randa
,
Lindstrom, Kristin
,
Jin, Sheng Chih
,
Zeng, Xue
,
Bilguvar, Kaya
,
Papavasileiou, Antigone
,
Xing, Qinghe
,
Zhu, Changlian
,
Boysen, Katja
,
Vairo, Filippo
,
Klee, Eric W.
,
Tillema, Jan-Mendelt
,
Payne, Eric T.
,
Cousin, Margot A.
,
Kruisselbrink, Teresa M.
,
Wick, Myra J.
,
Baker, Joshua
,
Smith, Nicholas
,
Angrist, Misha
,
Ashley, Patricia
,
Bidegain, Margarita
,
Chambers, Eileen
,
Cope, Heidi
,
Cotten, C. Michael
,
Curington, Theresa
,
Davis, Erica E.
,
Fisher, Kimberley
,
French, Amanda
,
Gallentine, William
,
Hill, Kevin
,
Kansagra, Sujay
,
Katsanis, Sara
,
Kurtzberg, Joanne
,
Marcus, Jeffrey
,
McDonald, Marie
,
Mikati, Mohammed
,
Miller, Stephen
,
Murtha, Amy
,
Perilla, Yezmin
,
Pizoli, Carolyn
,
Ross, Sherry
,
Sadeghpour, Azita
,
Smith, Edward
,
Wiener, John
,
Corbett, Mark A.
,
Goldmann, Eva
,
Kichula, Elizabeth
,
Segal, Eric
,
Jackson, Kelly E.
,
Asamoah, Alexander
,
McCarrier, Julie
,
Botto, Lorenzo D.
,
Tvrdik, Tatiana
,
Cascino, Gregory D.
,
Klingerman, Sherry
,
Neumann, Catherine
,
Nolan, Melinda A.
,
Snell, Russell G.
,
Lehnert, Klaus
,
Sadleir, Lynette G.
,
Kvarnung, Malin
,
Guerrini, Renzo
,
Friez, Michael J.
,
Lyons, Michael J.
,
Leonhard, Jennifer
,
Kringlen, Gabriel
,
El Achkar, Christelle M.
,
Smith, Lacey A.
,
Carss, Keren J.
,
Rankin, Julia
,
Zeman, Adam
,
Blyth, Moira
,
Kerr, Bronwyn
,
Ruiz, Karla
,
Urquhart, Jill
,
Banka, Siddharth
,
Scheffer, Ingrid E.
,
Zamponi, Gerald W.
,
Mefford, Heather C.
Published in
American journal of human genetics
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American Journal Of Human Genetics
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Human And Ecological Risk Assessment
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Life Sciences & Biomedicine
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Science & Technology
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Adolescent
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Adult
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Arthrogryposis
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Biodiversity & Conservation
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Biodiversity Conservation
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Ca2+ Channels
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Cacna1E, Ion Channel
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Calcium Channel R Type
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Calcium Channels, R-Type
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Calcium-Channel Dysfunction
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Cation Transport Proteins
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