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Genetics in medicine, 2017-08, Vol.19 (8), p.900-908
- Bengani, Hemant
- Handley, Mark
- Alvi, Mohsan
- Ibitoye, Rita
- Lees, Melissa
- Lynch, Sally Ann
- Lam, Wayne
- Fannemel, Madeleine
- Nordgren, Ann
- Malmgren, H
- Kvarnung, M
- Mehta, Sarju
- McKee, Shane
- Whiteford, Margo
- Stewart, Fiona
- Connell, Fiona
- Clayton-Smith, Jill
- Mansour, Sahar
- Mohammed, Shehla
- Fryer, Alan
- Morton, Jenny
- Grozeva, Detelina
- Asam, Tara
- Moore, David
- Sifrim, Alejandro
- McRae, Jeremy
- Hurles, Matthew E
- Firth, Helen V
- Raymond, F Lucy
- Kini, Usha
- Nellåker, Christoffer
- Ddd Study
- FitzPatrick, David R
2017
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Human genetics, 2017-02, Vol.136 (2), p.179-192
- Bramswig, Nuria C.
- Lüdecke, H.-J.
- Pettersson, M.
- Albrecht, B.
- Bernier, R. A.
- Cremer, K.
- Eichler, E. E.
- Falkenstein, D.
- Gerdts, J.
- Jansen, S.
- Kuechler, A.
- Kvarnung, M.
- Lindstrand, A.
- Nilsson, D.
- Nordgren, A.
- Pfundt, R.
- Spruijt, L.
- Surowy, H. M.
- de Vries, B. B. A.
- Wieland, T.
- Engels, H.
- Strom, T. M.
- Kleefstra, T.
- Wieczorek, D.
2017
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Clinical genetics, 2016-01, Vol.89 (1), p.99-103
2016
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1666
2019
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International journal of molecular sciences, 2022-08, Vol.23 (16), p.9392
2022
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Advances in experimental medicine and biology, 2017, Vol.1031, p.39-54
2017
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Journal of medical genetics, 2013-08, Vol.50 (8), p.521-528
2013
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Genetics in medicine, 2022-11, Vol.24 (11), p.2296-2307
- Lindstrand, Anna
- Ek, Marlene
- Kvarnung, Malin
- Anderlid, Britt-Marie
- Björck, Erik
- Carlsten, Jonas
- Eisfeldt, Jesper
- Grigelioniene, Giedre
- Gustavsson, Peter
- Hammarsjö, Anna
- Helgadóttir, Hafdís T.
- Hellström-Pigg, Maritta
- Kuchinskaya, Ekaterina
- Lagerstedt-Robinson, Kristina
- Levin, Lars-Åke
- Lieden, Agne
- Lindelöf, Hillevi
- Malmgren, Helena
- Nilsson, Daniel
- Svensson, Eva
- Paucar, Martin
- Sahlin, Ellika
- Tesi, Bianca
- Tham, Emma
- Winberg, Johanna
- Winerdal, Max
- Wincent, Josephine
- Johansson Soller, Maria
- Pettersson, Maria
- Nordgren, Ann
2022
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American journal of human genetics, 2018-11, Vol.103 (5), p.666-678
- 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.
2018
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Clinical genetics, 2018-12, Vol.94 (6), p.528-537
2018
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American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3083-3087
2014
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Frontiers in neurology, 2023, Vol.14, p.1170005-1170005
- Ek, Marlene
- Nilsson, Daniel
- Engvall, Martin
- Malmgren, Helena
- Thonberg, Håkan
- Pettersson, Maria
- Anderlid, Britt-Marie
- Hammarsjö, Anna
- Helgadottir, Hafdis T
- Arnardottir, Snjolaug
- Naess, Karin
- Nennesmo, Inger
- Paucar, Martin
- Hjartarson, Helgi Thor
- Press, Rayomand
- Solders, Göran
- Sejersen, Thomas
- Lindstrand, Anna
- Kvarnung, Malin
2023
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Neurology. Genetics, 2023-12, Vol.9 (6), p.e200100-e200100
2023
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Neurology. Genetics, 2022-06, Vol.8 (3), p.e668-e668
2022
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Frontiers in genetics, 2019-09, Vol.10, p.896-896
2019
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Genetics in medicine, 2017-08, Vol.19 (8), p.900-908
- Bengani, Hemant
- Handley, Mark
- Alvi, Mohsan
- Ibitoye, Rita
- Lees, Melissa
- Lynch, Sally Ann
- Lam, Wayne
- Fannemel, Madeleine
- Nordgren, Ann
- Malmgren, H.
- Kvarnung, M.
- Mehta, Sarju
- McKee, Shane
- Whiteford, Margo
- Stewart, Fiona
- Connell, Fiona
- Clayton-Smith, Jill
- Mansour, Sahar
- Mohammed, Shehla
- Fryer, Alan
- Morton, Jenny
- Grozeva, Detelina
- Asam, Tara
- Moore, David
- Sifrim, Alejandro
- McRae, Jeremy
- Hurles, Matthew E.
- Firth, Helen V.
- Raymond, F. Lucy
- Kini, Usha
- Nellåker, Christoffer
- FitzPatrick, David R.
2017
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.590
2023
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, Vol.32, p.523
2024
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, Vol.28 (SUPPL 1), p.52
2020
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British journal of cancer, 2001-01, Vol.84 (1), p.122-125
2001
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.451
- Lindstrand, A
- Ek, M
- Kvarnung, M
- Anderlid, BM
- Bjorck, E
- Carlsten, J
- Eisfeldt, J
- Grigelioniene, G
- Gustavsson, P
- Hammarsjo, A
- Helgadottir, H
- Pigg, MH
- Kuchinskaya, E
- Lagerstedt-Robinson, K
- Levin, LA
- Lieden, A
- Lindelof, H
- Malmgren, H
- Nilsson, D
- Svensson, E
- Arce, MP
- Sahlin, E
- Tesi, B
- Tham, E
- Winberg, J
- Winerdal, M
- Wincent, J
- Soller, MJ
- Pettersson, M
- Nordgren, A
2023
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Genetics in Medicine Open, 2024-07, p.101873, Article 101873
- van der Sluijs, P.J.
- Gösgens, M.
- Dingemans, A.J.M.
- Striano, P.
- Riva, A.
- Mignot, C.
- Faudet, A.
- Vasileiou, G.
- Walther, M.
- Vergano, S.A. Schrier
- Alders, M.
- Alkuraya, F.S.
- Alorainy, I.
- Alsaif, H.S.
- Anderlid, B.
- Bache, I.
- van Beek, I.
- Blanluet, M.
- van Bon, B.W.
- Brunet, T.
- Brunner, H.
- Carriero, M.L.
- Charles, P.
- Chatron, N.
- Coccia, E.
- Dubourg, C.
- Earl, R.K.
- Eichler, E.E.
- Faivre, L.
- Foulds, N.
- Graziano, C.
- Guerrot, A.M.
- Hashem, M.O.
- Heide, S.
- Heron, D.
- Hickey, S.E.
- Hopman, S.M.J.
- Kattentidt-Mouravieva, A.
- Kerkhof, J.
- Wassink-Ruiter, J.S. Klein
- Kurtz-Nelson, E.C.
- Kušíková, K.
- Kvarnung, M.
- Lecoquierre, F.
- Leszinski, G.S.
- Loberti, L.
- Magoulas, P.L.
- Mari, F.
- Maystadt, I.
- Merla, G.
- Milunsky, J.M.
- Moortgat, S.
- Nicolas, G.
- O’ Leary, M.
- Odent, S.
- Ozmore, J.R.
- Parbhoo, K.
- Pfundt, R.
- Piccione, M.
- Pinto, A.M.
- Popp, B.
- Putoux, A.
- Rehm, H.L.
- Reis, A.
- Renieri, A.
- Rosenfeld, J.A.
- Rossi, M.
- Salzano, E.
- Saugier-Veber, P.
- Seri, M.
- Severi, G.
- Sonmez, F.M.
- Strobl-Wildemann, G.
- Stuurman, K.E.
- Uctepe, E.
- Van Esch, H.
- Vitetta, G.
- de Vries, B.B.A.
- Wahl, D.
- Wang, T.
- Zacher, P.
- Heitink, K.R.
- Ropers, F.G.
- Steenbeek, D.
- Rybak, T.
- Santen, G.W.E.
2024
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MOLECULAR CYTOGENETICS, 2019, Vol.12
2019
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1533
2019
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