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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.12-12, Article 12
- Pugliese, Michael
- Tingley, Kylie
- Chow, Andrea
- Pallone, Nicole
- Smith, Maureen
- Rahman, Alvi
- Chakraborty, Pranesh
- Geraghty, Michael T
- Irwin, Julie
- Tessier, Laure
- Nicholls, Stuart G
- Offringa, Martin
- Butcher, Nancy J
- Iverson, Ryan
- Clifford, Tammy J
- Stockler, Sylvia
- Hutton, Brian
- Paik, Karen
- Tao, Jessica
- Skidmore, Becky
- Coyle, Doug
- Duddy, Kathleen
- Dyack, Sarah
- Greenberg, Cheryl R
- Ghai, Shailly Jain
- Karp, Natalya
- Korngut, Lawrence
- Kronick, Jonathan
- MacKenzie, Alex
- MacKenzie, Jennifer
- Maranda, Bruno
- Mitchell, John J
- Potter, Murray
- Prasad, Chitra
- Schulze, Andreas
- Sparkes, Rebecca
- Taljaard, Monica
- Trakadis, Yannis
- Walia, Jagdeep
- Potter, Beth K
2020
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Journal of human genetics, 2021-05, Vol.66 (5), p.451-464
2021
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Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100763-100763, Article 100763
2021
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Genetics in Medicine Open, 2024, Vol.2, p.101379, Article 101379
- Chow, Andrea
- D'Amours, Guylaine
- Jordan, Isabel
- Pallone, Nicole
- Smith, Maureen
- Chakraborty, Pranesh
- Al-Baldawi, Zobaida
- Paradis, Julie
- Brehaut, Jamie
- Chan, Alicia
- Cohen, Eyal
- Dyack, Sarah
- Gillis, Jane
- Goobie, Sharan
- Graham, Ian
- Rockman-Greenberg, Cheryl
- Grimshaw, Jeremy
- Hayeems, Robin
- Inbar-Feigenberg, Michal
- Jain-Ghai, Shailly
- Khangura, Sara
- MacKenzie, Jennifer
- Major, Nathalie
- Mitchell, John
- Nicholls, Stuart
- Pender, Amy
- Potter, Murray
- Prasad, Chitra
- Karp, Natalya
- Schulze, Andreas
- Siriwardena, Komudi
- Speechley, Kathy
- Stockler, Sylvia
- Trakadis, Yannis
- van Karnebeek, Clara
- Walia, Jagdeep
- Wilson, Kumanan
- Wilson, Brenda
- Yu, Andrea
- Potter, Beth
2024
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Canadian Medical Association journal (CMAJ), 2023-06, Vol.195 (22), p.E792-EE798
2023
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Canadian Medical Association journal (CMAJ), 2023-03, Vol.195 (11), p.E404-E409
2023
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Hepatology (Baltimore, Md.), 2021-09, Vol.74 (3), p.1702-1704
2021
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Archives of disease in childhood, 2022-08, Vol.107 (Suppl 2), p.A200-A201
2022
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American journal of human genetics, 2019-04, Vol.104 (4), p.685-700
- Aref-Eshghi, Erfan
- Bend, Eric G.
- Colaiacovo, Samantha
- Caudle, Michelle
- Chakrabarti, Rana
- Napier, Melanie
- Brick, Lauren
- Brady, Lauren
- Carere, Deanna Alexis
- Levy, Michael A.
- Kerkhof, Jennifer
- Stuart, Alan
- Saleh, Maha
- Beaudet, Arthur L.
- Li, Chumei
- Kozenko, Maryia
- Karp, Natalya
- Prasad, Chitra
- Siu, Victoria Mok
- Tarnopolsky, Mark A.
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Krantz, Ian D.
- Deardorff, Matthew A.
- Schwartz, Charles E.
- Sadikovic, Bekim
2019
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Journal of clinical sleep medicine, 2022-09, Vol.18 (9), p.2321-2325
2022
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Epilepsy & behavior, 2019-12, Vol.101, p.106765, Article 106765
2019
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Nature communications, 2021-08, Vol.12 (1), p.4680-4680, Article 4680
- Timberlake, Andrew T.
- Griffin, Casey
- Heike, Carrie L.
- Hing, Anne V.
- Cunningham, Michael L.
- Chitayat, David
- Davis, Mark R.
- Doust, Soghra J.
- Drake, Amelia F.
- Duenas-Roque, Milagros M.
- Goldblatt, Jack
- Gustafson, Jonas A.
- Hurtado-Villa, Paula
- Johns, Alexis
- Karp, Natalya
- Laing, Nigel G.
- Magee, Leanne
- Mullegama, Sureni V.
- Pachajoa, Harry
- Porras-Hurtado, Gloria L.
- Schnur, Rhonda E.
- Slee, Jennie
- Singer, Steven L.
- Staffenberg, David A.
- Timms, Andrew E.
- Wise, Cheryl A.
- Zarante, Ignacio
- Saint-Jeannet, Jean-Pierre
- Luquetti, Daniela V.
2021
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European journal of medical genetics, 2012-11, Vol.55 (11), p.605-610
2012
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Npj genomic medicine, 2016-01, Vol.1 (1), p.15012-15012, Article 15012
- Stavropoulos, Dimitri J
- Merico, Daniele
- Jobling, Rebekah
- Bowdin, Sarah
- Monfared, Nasim
- Thiruvahindrapuram, Bhooma
- Nalpathamkalam, Thomas
- Pellecchia, Giovanna
- Yuen, Ryan K C
- Szego, Michael J
- Hayeems, Robin Z
- Shaul, Randi Zlotnik
- Brudno, Michael
- Girdea, Marta
- Frey, Brendan
- Alipanahi, Babak
- Ahmed, Sohnee
- Babul-Hirji, Riyana
- Porras, Ramses Badilla
- Carter, Melissa T
- Chad, Lauren
- Chaudhry, Ayeshah
- Chitayat, David
- Doust, Soghra Jougheh
- Cytrynbaum, Cheryl
- Dupuis, Lucie
- Ejaz, Resham
- Fishman, Leona
- Guerin, Andrea
- Hashemi, Bita
- Helal, Mayada
- Hewson, Stacy
- Inbar-Feigenberg, Michal
- Kannu, Peter
- Karp, Natalya
- Kim, Raymond H
- Kronick, Jonathan
- Liston, Eriskay
- MacDonald, Heather
- Mercimek-Mahmutoglu, Saadet
- Mendoza-Londono, Roberto
- Nasr, Enas
- Nimmo, Graeme
- Parkinson, Nicole
- Quercia, Nada
- Raiman, Julian
- Roifman, Maian
- Schulze, Andreas
- Shugar, Andrea
- Shuman, Cheryl
- Sinajon, Pierre
- Siriwardena, Komudi
- Weksberg, Rosanna
- Yoon, Grace
- Carew, Chris
- Erickson, Raith
- Leach, Richard A
- Klein, Robert
- Ray, Peter N
- Meyn, M Stephen
- Scherer, Stephen W
- Cohn, Ronald D
- Marshall, Christian R
2016
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Canadian journal of neurological sciences, 2021-03, Vol.48 (2), p.233-244
2021
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Pediatrics, 2021-08, Vol.148 (2), p.1
- Pugliese, Michael
- Tingley, Kylie
- Chow, Andrea
- Pallone, Nicole
- Smith, Maureen
- Chakraborty, Pranesh
- Geraghty, Michael T
- Irwin, Julie K
- Mitchell, John J
- Stockler, Sylvia
- Nicholls, Stuart G
- Offringa, Martin
- Rahman, Alvi
- Tessier, Laure A
- Butcher, Nancy J
- Iverson, Ryan
- Lamoureux, Monica
- Clifford, Tammy J
- Hutton, Brian
- Paik, Karen
- Tao, Jessica
- Skidmore, Becky
- Coyle, Doug
- Duddy, Kathleen
- Dyack, Sarah
- Greenberg, Cheryl R
- Jain Ghai, Shailly
- Karp, Natalya
- Korngut, Lawrence
- Kronick, Jonathan
- MacKenzie, Alex
- MacKenzie, Jennifer
- Maranda, Bruno
- Potter, Murray
- Prasad, Chitra
- Schulze, Andreas
- Sparkes, Rebecca
- Taljaard, Monica
- Trakadis, Yannis
- Walia, Jagdeep
- Potter, Beth K
2021
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European journal of medical genetics, 2019-04, Vol.62 (4), p.235-238
2019
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Genetics in medicine, 2024-01, Vol.26 (1), p.101007, Article 101007
- Sabbagh, Quentin
- Haghshenas, Sadegheh
- Piard, Juliette
- Trouvé, Chloé
- Amiel, Jeanne
- Attié-Bitach, Tania
- Balci, Tugce
- Barat-Houari, Mouna
- Belonis, Alyce
- Boute, Odile
- Brightman, Diana S
- Bruel, Ange-Line
- Caraffi, Stefano Giuseppe
- Chatron, Nicolas
- Collet, Corinne
- Dufour, William
- Edery, Patrick
- Fong, Chin-To
- Fusco, Carlo
- Gatinois, Vincent
- Gouy, Evan
- Guerrot, Anne-Marie
- Heide, Solveig
- Joshi, Aakash
- Karp, Natalya
- Keren, Boris
- Lesieur-Sebellin, Marion
- Levy, Jonathan
- Levy, Michael A
- Lozano, Claire
- Lyonnet, Stanislas
- Margot, Henri
- Marzin, Pauline
- McConkey, Haley
- Michaud, Vincent
- Nicolas, Gaël
- Nizard, Mevyn
- Paulet, Alix
- Peluso, Francesca
- Pernin, Vincent
- Perrin, Laurence
- Philippe, Christophe
- Prasad, Chitra
- Prasad, Madhavi
- Relator, Raissa
- Rio, Marlène
- Rondeau, Sophie
- Ruault, Valentin
- Ruiz-Pallares, Nathalie
- Sanchez, Elodie
- Shears, Debbie
- Siu, Victoria Mok
- Sorlin, Arthur
- Tedder, Matthew
- Tharreau, Mylène
- Mau-Them, Frédéric Tran
- van der Laan, Liselot
- Van Gils, Julien
- Verloes, Alain
- Whalen, Sandra
- Willems, Marjolaine
- Yauy, Kévin
- Zuntini, Roberta
- Kerkhof, Jennifer
- Sadikovic, Bekim
- Geneviève, David
2024
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Genetics in medicine, 2024-02, Vol.26 (2), p.101012, Article 101012
- Hartley, Taila
- Marshall, Deborah
- Acker, Meryl
- Fooks, Katharine
- Gillespie, Meredith K.
- Price, E. Magda
- Graham, Ian D.
- White-Brown, Alexandre
- MacKay, Layla
- Macdonald, Stella K.
- Brady, Lauren
- Hui, Angela Y.
- Andrews, Joseph D.
- Chowdhury, Ashfia
- Wall, Erika
- Soubry, Élisabeth
- Ediae, Grace U.
- Rojas, Samantha
- Assamad, Daniel
- Dyment, David
- Tarnopolsky, Mark
- Sawyer, Sarah L.
- Chisholm, Caitlin
- Lemire, Gabrielle
- Amburgey, Kimberly
- Lazier, Joanna
- Mendoza-Londono, Roberto
- Dowling, James J.
- Balci, Tugce B.
- Armour, Christine M.
- Bhola, Priya T.
- Costain, Gregory
- Dupuis, Lucie
- Carter, Melissa
- Badalato, Lauren
- Richer, Julie
- Boswell-Patterson, Christie
- Kannu, Peter
- Cordeiro, Dawn
- Warman-Chardon, Jodi
- Graham, Gail
- Siu, Victoria Mok
- Cytrynbaum, Cheryl
- Rusnak, Alison
- Aul, Ritu B.
- Yoon, Grace
- Gonorazky, Hernan
- McNiven, Vanda
- Mercimek-Andrews, Saadet
- Guerin, Andrea
- Deshwar, Ashish R.
- Marwaha, Ashish
- Weksberg, Rosanna
- Karp, Natalya
- Campbell, Maggie
- Al-Qattan, Sarah
- Shuen, Andrew Y.
- Inbar-Feigenberg, Michal
- Cohn, Ronald
- Szuto, Anna
- Inglese, Cara
- Poirier, Myriam
- Chad, Lauren
- Potter, Beth
- Boycott, Kym M.
- Hayeems, Robin
- Boycott, Kym
- Brudno, Michael
- Bernier, Francois
- van Karnebeek, Clara
- Kernohan, Kristin
- Innes, Micheil
- Lamont, Ryan
- Parboosingh, Jillian
- Marshall, Christian
- Mendoza, Roberto
- Dowling, James
- Knoppers, Bartha
- Lehman, Anna
- Mostafavi, Sara
2024
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American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1034-1041
2019
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JAMA neurology, 2014-07, Vol.71 (7), p.901
2014
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Human mutation, 2022-03, Vol.43 (3), p.305-315
- Yang, Jennifer H.
- Friederich, Marisa W.
- Ellsworth, Katarzyna A.
- Frederick, Aliya
- Foreman, Emily
- Malicki, Denise
- Dimmock, David
- Lenberg, Jerica
- Prasad, Chitra
- Yu, Andrea C.
- Anthony Rupar, C.
- Hegele, Robert A.
- Manickam, Kandamurugu
- Koboldt, Daniel C.
- Crist, Erin
- Choi, Samantha S.
- Farhan, Sali M.K.
- Harvey, Helen
- Sattar, Shifteh
- Karp, Natalya
- Wong, Terence
- Haas, Richard
- Van Hove, Johan L. K.
- Wigby, Kristen
2022
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Journal of medical genetics, 2016-01, Vol.53 (1), p.62-72
- Slaats, Gisela G
- Isabella, Christine R
- Kroes, Hester Y
- Dempsey, Jennifer C
- Gremmels, Hendrik
- Monroe, Glen R
- Phelps, Ian G
- Duran, Karen J
- Adkins, Jonathan
- Kumar, Sairam A
- Knutzen, Dana M
- Knoers, Nine V
- Mendelsohn, Nancy J
- Neubauer, David
- Mastroyianni, Sotiria D
- Vogt, Julie
- Worgan, Lisa
- Karp, Natalya
- Bowdin, Sarah
- Glass, Ian A
- Parisi, Melissa A
- Otto, Edgar A
- Johnson, Colin A
- Hildebrandt, Friedhelm
- van Haaften, Gijs
- Giles, Rachel H
- Doherty, Dan
2016
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Orphanet journal of rare diseases, 2020-01, Vol.15 (1)
- Pugliese, Michael
- Tingley, Kylie
- Chow, Andrea
- Pallone, Nicole
- Smith, Maureen
- Rahman, Alvi
- Chakraborty, Pranesh
- Geraghty, Michael T
- Irwin, Julie
- Tessier, Laure
- Nicholls, Stuart G
- Offringa, Martin
- Butcher, Nancy J
- Iverson, Ryan
- Clifford, Tammy J
- Stockler, Sylvia
- Hutton, Brian
- Paik, Karen
- Tao, Jessica
- Skidmore, Becky
- Coyle, Doug
- Duddy, Kathleen
- Dyack, Sarah
- Greenberg, Cheryl R
- Ghai, Shailly Jain
- Karp, Natalya
- Korngut, Lawrence
- Kronick, Jonathan
- MacKenzie, Alex
- MacKenzie, Jennifer
- Maranda, Bruno
- Mitchell, John J
- Potter, Murray
- Prasad, Chitra
- Schulze, Andreas
- Sparkes, Rebecca
- Taljaard, Monica
- Trakadis, Yannis
- Walia, Jagdeep
- Potter, Beth K
- ,
2020
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