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Annals of the New York Academy of Sciences, 2012-08, Vol.1266 (1), p.124-137
2012
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Genetics in medicine, 2020-08, Vol.22 (8), p.1391-1400
2020
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Genetics in medicine, 2021-11, Vol.23 (11), p.2228-2228
- Sadikovic, Bekim
- Levy, Michael A
- Kerkhof, Jennifer
- Aref-Eshghi, Erfan
- Schenkel, Laila
- Stuart, Alan
- McConkey, Haley
- Henneman, Peter
- Venema, Andrea
- Schwartz, Charles E
- Stevenson, Roger E
- Skinner, Steven A
- DuPont, Barbara R
- Fletcher, Robin S
- Balci, Tugce B
- Siu, Victoria Mok
- Granadillo, Jorge L
- Masters, Jennefer
- Kadour, Mike
- Friez, Michael J
- van Haelst, Mieke M
- Mannens, Marcel M A M
- Louie, Raymond J
- Lee, Jennifer A
- Tedder, Matthew L
- Alders, Marielle
2021
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Blood, 2012-04, Vol.119 (15), p.3585-3594
2012
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American journal of human genetics, 2020-03, Vol.106 (3), p.356-370
- Aref-Eshghi, Erfan
- Kerkhof, Jennifer
- Pedro, Victor P.
- Barat-Houari, Mouna
- Ruiz-Pallares, Nathalie
- Andrau, Jean-Christophe
- Lacombe, Didier
- Van-Gils, Julien
- Fergelot, Patricia
- Dubourg, Christèle
- Cormier-Daire, Valerie
- Rondeau, Sophie
- Lecoquierre, François
- Saugier-Veber, Pascale
- Nicolas, Gaël
- Lesca, Gaetan
- Chatron, Nicolas
- Sanlaville, Damien
- Vitobello, Antonio
- Faivre, Laurence
- Thauvin-Robinet, Christel
- Laumonnier, Frederic
- Raynaud, Martine
- Alders, Mariëlle
- Mannens, Marcel
- Henneman, Peter
- Hennekam, Raoul C.
- Velasco, Guillaume
- Francastel, Claire
- Ulveling, Damien
- Ciolfi, Andrea
- Pizzi, Simone
- Tartaglia, Marco
- Heide, Solveig
- Héron, Delphine
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Afenjar, Alexandra
- Bienvenu, Thierry
- Campeau, Philippe M.
- Rousseau, Justine
- Levy, Michael A.
- Brick, Lauren
- Kozenko, Mariya
- Balci, Tugce B.
- Siu, Victoria Mok
- Stuart, Alan
- Kadour, Mike
- Masters, Jennifer
- Takano, Kyoko
- Kleefstra, Tjitske
- de Leeuw, Nicole
- Field, Michael
- Shaw, Marie
- Gecz, Jozef
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Friez, Michael J.
- Tedder, Matt
- Lee, Jennifer A.
- DuPont, Barbara R.
- Stevenson, Roger E.
- Skinner, Steven A.
- Schwartz, Charles E.
- Genevieve, David
- Sadikovic, Bekim
2020
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The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368
2015
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Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074
- Sadikovic, Bekim
- Levy, Michael A.
- Kerkhof, Jennifer
- Aref-Eshghi, Erfan
- Schenkel, Laila
- Stuart, Alan
- McConkey, Haley
- Henneman, Peter
- Venema, Andrea
- Schwartz, Charles E.
- Stevenson, Roger E.
- Skinner, Steven A.
- DuPont, Barbara R.
- Fletcher, Robin S.
- Balci, Tugce B.
- Siu, Victoria Mok
- Granadillo, Jorge L.
- Masters, Jennefer
- Kadour, Mike
- Friez, Michael J.
- van Haelst, Mieke M.
- Mannens, Marcel M.A.M.
- Louie, Raymond J.
- Lee, Jennifer A.
- Tedder, Matthew L.
- Alders, Marielle
2021
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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PloS one, 2011-11, Vol.6 (11), p.e27486
2011
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Canadian journal of neurological sciences, 2021-03, Vol.48 (2), p.233-244
2021
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2829-2845
2021
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European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.905-917
- Sczakiel, Henrike L
- Zhao, Max
- Wollert-Wulf, Brigitte
- Danyel, Magdalena
- Ehmke, Nadja
- Stoltenburg, Corinna
- Damseh, Nadirah
- Al-Ashhab, Motee
- Balci, Tugce B
- Osmond, Matthew
- Andrade, Andrea
- Schallner, Jens
- Porrmann, Joseph
- McDonald, Kimberly
- Liao, Mingjuan
- Oppermann, Henry
- Platzer, Konrad
- Dierksen, Nadine
- Mojarrad, Majid
- Eslahi, Atieh
- Bakaeean, Behnaz
- Calame, Daniel G
- Lupski, James R
- Firoozfar, Zahra
- Seyedhassani, Seyed Mohammad
- Mohammadi, Seyed Ahmad
- Anwaar, Najwa
- Rahman, Fatima
- Seelow, Dominik
- Janz, Martin
- Horn, Denise
- Maroofian, Reza
- Boschann, Felix
2023
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American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-01, Vol.177 (1), p.101-109
2018
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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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Human mutation, 2018-05, Vol.39 (5), p.666-675
- Jordan, Valerie K.
- Fregeau, Brieana
- Ge, Xiaoyan
- Giordano, Jessica
- Wapner, Ronald J.
- Balci, Tugce B.
- Carter, Melissa T.
- Bernat, John A.
- Moccia, Amanda N.
- Srivastava, Anshika
- Martin, Donna M.
- Bielas, Stephanie L.
- Pappas, John
- Svoboda, Melissa D.
- Rio, Marlène
- Boddaert, Nathalie
- Cantagrel, Vincent
- Lewis, Andrea M.
- Scaglia, Fernando
- Kohler, Jennefer N.
- Bernstein, Jonathan A.
- Dries, Annika M.
- Rosenfeld, Jill A.
- DeFilippo, Colette
- Thorson, Willa
- Yang, Yaping
- Sherr, Elliott H.
- Bi, Weimin
- Scott, Daryl A.
2018
Link zum Volltext
American journal of human genetics, 2021-06, Vol.108 (6), p.1161-1163
- Aref-Eshghi, Erfan
- Kerkhof, Jennifer
- Pedro, Victor P.
- France, Groupe DI
- Barat-Houari, Mouna
- Ruiz-Pallares, Nathalie
- Andrau, Jean-Christophe
- Lacombe, Didier
- Van-Gils, Julien
- Fergelot, Patricia
- Dubourg, Christéle
- Cormier-Daire, Valerie
- Rondeau, Sophie
- Lecoquierre, François
- Saugier-Veber, Pascale
- Nicolas, Gaël
- Lesca, Gaetan
- Chatron, Nicolas
- Sanlaville, Damien
- Vitobello, Antonio
- Faivre, Laurence
- Thauvin-Robinet, Christel
- Laumonnier, Frederic
- Raynaud, Martine
- Alders, Mariëlle
- Mannens, Marcel
- Henneman, Peter
- Hennekam, Raoul C.
- Velasco, Guillaume
- Francastel, Claire
- Ulveling, Damien
- Ciolfi, Andrea
- Pizzi, Simone
- Tartaglia, Marco
- Heide, Solveig
- Héron, Delphine
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Afenjar, Alexandra
- Bienvenu, Thierry
- Campeau, Philippe M.
- Rousseau, Justine
- Levy, Michael A.
- Brick, Lauren
- Kozenko, Mariya
- Balci, Tugce B.
- Siu, Victoria Mok
- Stuart, Alan
- Kadour, Mike
- Masters, Jennifer
- Takano, Kyoko
- Kleefstra, Tjitske
- de Leeuw, Nicole
- Field, Michael
- Shaw, Marie
- Gecz, Jozef
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Friez, Michael J.
- Tedder, Matt
- Lee, Jennifer A.
- DuPont, Barbara R.
- Stevenson, Roger E.
- Skinner, Steven A.
- Schwartz, Charles E.
- Genevieve, David
- Sadikovic, Bekim
2021
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Clinical genetics, 2023-03, Vol.103 (3), p.288-300
- Hartley, Taila
- Soubry, Élisabeth
- Acker, Meryl
- Osmond, Matthew
- Couse, Madeline
- Gillespie, Meredith K.
- Ito, Yoko
- Marshall, Aren E.
- Lemire, Gabrielle
- Huang, Lijia
- Chisholm, Caitlin
- Eaton, Alison J.
- Price, E. Magda
- Dowling, James J.
- Ramani, Arun K.
- Mendoza‐Londono, Roberto
- Costain, Gregory
- Axford, Michelle M.
- Szuto, Anna
- McNiven, Vanda
- Damseh, Nadirah
- Jobling, Rebekah
- Kock, Leanne
- Mojarad, Bahareh A.
- Young, Ted
- Shao, Zhuo
- Hayeems, Robin Z.
- Graham, Ian D.
- Tarnopolsky, Mark
- Brady, Lauren
- Armour, Christine M.
- Geraghty, Michael
- Richer, Julie
- Sawyer, Sarah
- Lines, Matthew
- Mercimek‐Andrews, Saadet
- Carter, Melissa T.
- Graham, Gail
- Kannu, Peter
- Lazier, Joanna
- Li, Chumei
- Aul, Ritu B.
- Balci, Tugce B.
- Dlamini, Nomazulu
- Badalato, Lauren
- Guerin, Andrea
- Walia, Jagdeep
- Chitayat, David
- Cohn, Ronald
- Faghfoury, Hanna
- Forster‐Gibson, Cynthia
- Gonorazky, Hernan
- Grunebaum, Eyal
- Inbar‐Feigenberg, Michal
- Karp, Natalya
- Morel, Chantal
- Rusnak, Alison
- Sondheimer, Neal
- Warman‐Chardon, Jodi
- Bhola, Priya T.
- Bourque, Danielle K.
- Chacon, Inara J.
- Chad, Lauren
- Chakraborty, Pranesh
- Chong, Karen
- Doja, Asif
- Goh, Elaine Suk‐Ying
- Saleh, Maha
- Potter, Beth K.
- Marshall, Christian R.
- Dyment, David A.
- Kernohan, Kristin
- Boycott, Kym M.
2023
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1900-1910
- Wojcik, Monica H.
- Srivastava, Siddharth
- Agrawal, Pankaj B.
- Balci, Tugce B.
- Callewaert, Bert
- Calvo, Pier Luigi
- Carli, Diana
- Caudle, Michelle
- Colaiacovo, Samantha
- Cross, Laura
- Demetriou, Kalliope
- Drazba, Katy
- Dutra‐Clarke, Marina
- Edwards, Matthew
- Genetti, Casie A.
- Grange, Dorothy K.
- Hickey, Scott E.
- Isidor, Bertrand
- Küry, Sébastien
- Lachman, Herbert M.
- Lavillaureix, Alinoe
- Lyons, Michael J.
- Marcelis, Carlo
- Marco, Elysa J.
- Martinez‐Agosto, Julian A.
- Nowak, Catherine
- Pizzol, Antonio
- Planes, Marc
- Prijoles, Eloise J.
- Riberi, Evelise
- Rush, Eric T.
- Russell, Bianca E.
- Sachdev, Rani
- Schmalz, Betsy
- Shears, Deborah
- Stevenson, David A.
- Wilson, Kate
- Jansen, Sandra
- Vries, Bert B. A.
- Curry, Cynthia J.
2023
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Genetics in medicine, 2021-07, Vol.23 (7), p.1234-1245
- Chowdhury, Fuad
- Wang, Lei
- Al-Raqad, Mohammed
- Amor, David J.
- Baxová, Alice
- Bendová, Šárka
- Biamino, Elisa
- Brusco, Alfredo
- Caluseriu, Oana
- Cox, Nancy J.
- Froukh, Tawfiq
- Gunay-Aygun, Meral
- Hančárová, Miroslava
- Haynes, Devon
- Heide, Solveig
- Hoganson, George
- Kaname, Tadashi
- Keren, Boris
- Kosaki, Kenjiro
- Kubota, Kazuo
- Lemons, Jennifer M.
- Magriña, Maria A.
- Mark, Paul R.
- McDonald, Marie T.
- Montgomery, Sarah
- Morley, Gina M.
- Ohnishi, Hidenori
- Okamoto, Nobuhiko
- Rodriguez-Buritica, David
- Rump, Patrick
- Sedláček, Zdeněk
- Schatz, Krista
- Streff, Haley
- Uehara, Tomoko
- Walia, Jagdeep S.
- Wheeler, Patricia G.
- Wiesener, Antje
- Zweier, Christiane
- Kawakami, Koichi
- Wentzensen, Ingrid M.
- Lalani, Seema R.
- Siu, Victoria M.
- Bi, Weimin
- Balci, Tugce B.
2021
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Genetics in medicine, 2020-08, Vol.22 (8), p.1427-1427
2020
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European journal of medical genetics, 2015-06, Vol.58 (6), p.351-354
2015
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British journal of haematology, 2014-10, Vol.167 (1), p.48-61
2014
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Methods in molecular biology (Clifton, N.J.), 2015, Vol.1220, p.29
2015
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Indian journal of hematology & blood transfusion, 2016-12, Vol.32 (4), p.454-459
2016
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American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.458-463
2018
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