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Nature Genetics, 2009-02, Vol.41 (2), p.168-177
- Lu, Xin-Yan
- Horner, Michele
- Day-Salvatore, Debra-Lynn
- Sahoo, Trilochan
- Withers, Marjorie A
- Cheung, Sau Wai
- Gunderson, Kevin L
- Hunter, Jill V
- Sapir, Tamar
- Peiffer, Daniel A
- Yanagawa, Yuchio
- Reiner, Orly
- Shchelochkov, Oleg A
- Levy, Talia
- Lupski, James R
- Nezarati, Marjan M
- Martinez, Salvador
- Savage, Sarah K
- Shinder, Vera
- Harris, David J
- Ann Shotts, Vern
- Bi, Weimin
- Amato, Stephen S
- Beaudet, Arthur L
- Zhang, Feng
2009
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American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.300-303
2021
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Journal of medical genetics, 2016-12, Vol.53 (12), p.850-858
- de Lange, Iris M
- Helbig, Katherine L
- Weckhuysen, Sarah
- Møller, Rikke S
- Velinov, Milen
- Dolzhanskaya, Natalia
- Marsh, Eric
- Helbig, Ingo
- Devinsky, Orrin
- Tang, Sha
- Mefford, Heather C
- Myers, Candace T
- van Paesschen, Wim
- Striano, Pasquale
- van Gassen, Koen
- van Kempen, Marjan
- de Kovel, Carolien G F
- Piard, Juliette
- Minassian, Berge A
- Nezarati, Marjan M
- Pessoa, André
- Jacquette, Aurelia
- Maher, Bridget
- Balestrini, Simona
- Sisodiya, Sanjay
- Warde, Marie Therese Abi
- De St Martin, Anne
- Chelly, Jamel
- van ‘t Slot, Ruben
- Van Maldergem, Lionel
- Brilstra, Eva H
- Koeleman, Bobby P C
2016
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American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2041-2043
2018
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American journal of human genetics, 2022-10, Vol.109 (10), p.1867-1884
- Choufani, Sanaa
- McNiven, Vanda
- Cytrynbaum, Cheryl
- Jangjoo, Maryam
- Adam, Margaret P.
- Bjornsson, Hans T.
- Harris, Jacqueline
- Dyment, David A.
- Graham, Gail E.
- Nezarati, Marjan M.
- Aul, Ritu B.
- Castiglioni, Claudia
- Breckpot, Jeroen
- Devriendt, Koen
- Stewart, Helen
- Banos-Pinero, Benito
- Mehta, Sarju
- Sandford, Richard
- Dunn, Carolyn
- Mathevet, Remi
- van Maldergem, Lionel
- Piard, Juliette
- Brischoux-Boucher, Elise
- Vitobello, Antonio
- Faivre, Laurence
- Bournez, Marie
- Tran-Mau, Frederic
- Maystadt, Isabelle
- Fernández-Jaén, Alberto
- Alvarez, Sara
- García-Prieto, Irene Díez
- Alkuraya, Fowzan S.
- Alsaif, Hessa S.
- Rahbeeni, Zuhair
- El-Akouri, Karen
- Al-Mureikhi, Mariam
- Spillmann, Rebecca C.
- Shashi, Vandana
- Sanchez-Lara, Pedro A.
- Graham, John M.
- Roberts, Amy
- Chorin, Odelia
- Evrony, Gilad D.
- Kraatari-Tiri, Minna
- Dudding-Byth, Tracy
- Richardson, Anamaria
- Hunt, David
- Hamilton, Laura
- Dyack, Sarah
- Mendelsohn, Bryce A.
- Rodríguez, Nicolás
- Sánchez-Martínez, Rosario
- Tenorio-Castaño, Jair
- Nevado, Julián
- Lapunzina, Pablo
- Tirado, Pilar
- Carminho Amaro Rodrigues, Maria-Teresa
- Quteineh, Lina
- Innes, A. Micheil
- Kline, Antonie D.
- Au, P.Y. Billie
- Weksberg, Rosanna
2022
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Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269
- AlAbdi, Lama
- Maddirevula, Sateesh
- Shamseldin, Hanan E.
- Khouj, Ebtissal
- Helaby, Rana
- Hamid, Halima
- Almulhim, Aisha
- Hashem, Mais O.
- Abdulwahab, Firdous
- Abouyousef, Omar
- Alqahtani, Mashael
- Altuwaijri, Norah
- Jaafar, Amal
- Alshidi, Tarfa
- Alzahrani, Fatema
- Al-Sagheir, Afaf I.
- Mansour, Ahmad M.
- Alawaji, Ali
- Aldhilan, Amal
- Alhashem, Amal
- Alhemidan, Amal
- Nabil, Amira
- Khan, Arif O.
- Aljohar, Aziza
- Alsaleem, Badr
- Tabarki, Brahim
- Lourenco, Charles Marques
- Faqeih, Eissa
- AlShail, Essam
- Almesaifri, Fatima
- Mutairi, Fuad Al
- Alzaidan, Hamad
- Morsy, Heba
- Alshihry, Hind
- Alkuraya, Hisham
- Girisha, Katta Mohan
- Al-Fayez, Khawla
- Al-Rubeaan, Khalid
- kraoua, Lilia
- Alnemer, Maha
- Tulbah, Maha
- Zaki, Maha S.
- Alfadhel, Majid
- Abouelhoda, Mohammed
- Nezarati, Marjan M.
- Al-Qattan, Mohammad
- Shboul, Mohammad
- Abanemai, Mohammed
- Al-Muhaizea, Mohammad A.
- Al-owain, Mohammed
- Bafaqeeh, Mohammed Sameer
- Alshammari, Muneera
- Abukhalid, Musaad
- Alsahan, Nada
- Derar, Nada
- Meriki, Neama
- Bohlega, Saeed A.
- Tala, Saeed Al
- Alhassan, Saad
- Wali, Sami
- Mohamed, Sarar
- Coskun, Serdar
- Saadeh, Sermin
- Tkemaladze, Tinatin
- Kurdi, Wesam
- Alhumaidi, Zainab Ahmed
- Rahbeeni, Zuhair
- Alkuraya, Fowzan S.
2023
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Human mutation, 2020-03, Vol.41 (3), p.641-654
- Assia Batzir, Nurit
- Kishor Bhagwat, Pranjali
- Larson, Austin
- Coban Akdemir, Zeynep
- Bagłaj, Maciej
- Bofferding, Leon
- Bosanko, Katherine B.
- Bouassida, Skander
- Callewaert, Bert
- Cannon, Ashley
- Enchautegui Colon, Yazmin
- Garnica, Adolfo D.
- Harr, Margaret H.
- Heck, Sandra
- Hurst, Anna C. E.
- Jhangiani, Shalini N.
- Isidor, Bertrand
- Littlejohn, Rebecca O.
- Liu, Pengfei
- Magoulas, Pilar
- Mar Fan, Helen
- Marom, Ronit
- McLean, Scott
- Nezarati, Marjan M.
- Nugent, Kimberly M.
- Petersen, Michael B.
- Rocha, Maria L.
- Roeder, Elizabeth
- Smigiel, Robert
- Tully, Ian
- Weisfeld‐Adams, James
- Wells, Katerina O.
- Posey, Jennifer E.
- Lupski, James R.
- Beaudet, Arthur L.
- Wangler, Michael F.
2020
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American journal of human genetics, 2021-04, Vol.108 (4), p.749-756
- White, Susan M.
- Bhoj, Elizabeth
- Nellåker, Christoffer
- Lachmeijer, Augusta M.A.
- Marshall, Aren E.
- Boycott, Kym M.
- Li, Dong
- Smith, Wendy
- Hartley, Taila
- McBride, Arran
- Ernst, Michelle E.
- May, Alison S.
- Wieczorek, Dagmar
- Abou Jamra, Rami
- Koch-Hogrebe, Margarete
- Õunap, Katrin
- Pajusalu, Sander
- van Gassen, K.L.I.
- Sadedin, Simon
- Ellingwood, Sara
- Tan, Tiong Yang
- Christodoulou, John
- Barea, Jaime
- Lockhart, Paul J.
- Nezarati, Marjan M.
- Kernohan, Kristin D.
2021
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Human genetics, 2024-06, Vol.143 (6), p.761-773
- Vos, Niels
- Haghshenas, Sadegheh
- van der Laan, Liselot
- Russel, Perle K. M.
- Rooney, Kathleen
- Levy, Michael A.
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Maas, Saskia M.
- Vissers, Lisenka E. L. M.
- de Vries, Bert B. A.
- Pfundt, Rolph
- Elting, Mariet W.
- van Hagen, Johanna M.
- Verbeek, Nienke E.
- Jongmans, Marjolijn C. J.
- Lakeman, Phillis
- Rumping, Lynne
- Bosch, Danielle G. M.
- Vitobello, Antonio
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Nambot, Sophie
- Garde, Aurore
- Willems, Marjolaine
- Genevieve, David
- Nicolas, Gaël
- Busa, Tiffany
- Toutain, Annick
- Gérard, Marion
- Bizaoui, Varoona
- Isidor, Bertrand
- Merla, Giuseppe
- Accadia, Maria
- Schwartz, Charles E.
- Ounap, Katrin
- Hoffer, Mariëtte J. V.
- Nezarati, Marjan M.
- van den Boogaard, Marie-José H.
- Tedder, Matthew L.
- Rogers, Curtis
- Brusco, Alfredo
- Ferrero, Giovanni B.
- Spodenkiewicz, Marta
- Sidlow, Richard
- Mussa, Alessandro
- Trajkova, Slavica
- McCann, Emma
- Mroczkowski, Henry J.
- Jansen, Sandra
- Donker-Kaat, Laura
- Duijkers, Floor A. M.
- Stuurman, Kyra E.
- Mannens, Marcel M. A. M.
- Alders, Mariëlle
- Henneman, Peter
- White, Susan M.
- Sadikovic, Bekim
- van Haelst, Mieke M.
2024
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Prenatal diagnosis, 2016-09, Vol.36 (9), p.891-893
2016
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American journal of medical genetics. Part A, 2005-09, Vol.137A (3), p.283-287
2005
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Prenatal diagnosis, 2013-11, Vol.33 (11), p.1039-1043
2013
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American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.553-558
2012
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American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1661-1669
2010
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American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.657-664
2010
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Clinical neurophysiology, 2011, Vol.122 (1), p.e5-e6
2011
Link zum Volltext
The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331
- Girirajan, Santhosh
- Rosenfeld, Jill A
- Coe, Bradley P
- Parikh, Sumit
- Friedman, Neil
- Goldstein, Amy
- Filipink, Robyn A
- McConnell, Juliann S
- Angle, Brad
- Meschino, Wendy S
- Nezarati, Marjan M
- Asamoah, Alexander
- Jackson, Kelly E
- Gowans, Gordon C
- Martin, Judith A
- Carmany, Erin P
- Stockton, David W
- Schnur, Rhonda E
- Penney, Lynette S
- Martin, Donna M
- Raskin, Salmo
- Leppig, Kathleen
- Thiese, Heidi
- Smith, Rosemarie
- Aberg, Erika
- Niyazov, Dmitriy M
- Escobar, Luis F
- El-Khechen, Dima
- Johnson, Kisha D
- Lebel, Robert R
- Siefkas, Kiana
- Ball, Susie
- Shur, Natasha
- McGuire, Marianne
- Brasington, Campbell K
- Spence, J. Edward
- Martin, Laura S
- Clericuzio, Carol
- Ballif, Blake C
- Shaffer, Lisa G
- Eichler, Evan E
2012
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American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1215-1215
2011
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Clinical dysmorphology, 2008-04, Vol.17 (2), p.79
2008
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Clinical dysmorphology, 2007-01, Vol.16 (1), p.9
2007
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Clinical neurophysiology, 2009, Vol.120 (8), p.e182-e183
2009
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A2-A2
2015
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A2
2015
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Clinical dysmorphology, 2002-07, Vol.11 (3), p.215-218
2002
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American journal of medical genetics, 2002-06, Vol.110 (2), p.103-108
2002
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