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The Journal of pediatrics, 2014-05, Vol.164 (5), p.1195-1200
2014
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Genome research, 2013-01, Vol.23 (1), p.23
- Szafranski, Przemyslaw
- Dharmadhikari, Avinash V
- Brosens, Erwin
- Gurha, Priyatansh
- Kolodziejska, Katarzyna E
- Zhishuo, Ou
- Dittwald, Piotr
- Majewski, Tadeusz
- Mohan, K Naga
- Chen, Bo
- Person, Richard E
- Tibboel, Dick
- de Klein, Annelies
- Pinner, Jason
- Chopra, Maya
- Malcolm, Girvan
- Peters, Gregory
- Arbuckle, Susan
- Guiang, 3rd, Sixto F
- Hustead, Virginia A
- Jessurun, Jose
- Hirsch, Russel
- Witte, David P
- Maystadt, Isabelle
- Sebire, Neil
- Fisher, Richard
- Langston, Claire
- Sen, Partha
- Stankiewicz, Paweł
2013
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Prenatal diagnosis, 2017-10, Vol.37 (10), p.975-982
2017
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Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.46-46
2011
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BMC medical genetics, 2018-05, Vol.19 (1), p.90-90, Article 90
2018
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American journal of human genetics, 2016-04, Vol.98 (4), p.772-781
- Chong, Jessica X.
- Caputo, Viviana
- Phelps, Ian G.
- Stella, Lorenzo
- Worgan, Lisa
- Dempsey, Jennifer C.
- Nguyen, Alina
- Leuzzi, Vincenzo
- Webster, Richard
- Pizzuti, Antonio
- Marvin, Colby T.
- Ishak, Gisele E.
- Ardern-Holmes, Simone
- Richmond, Zara
- Bamshad, Michael J.
- Ortiz-Gonzalez, Xilma R.
- Tartaglia, Marco
- Chopra, Maya
- Doherty, Dan
2016
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Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.32-46
2022
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Annals of clinical and translational neurology, 2024-02, Vol.11 (2), p.251-262
2024
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Journal of paediatrics and child health, 2011-10, Vol.47 (10), p.711-716
2011
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JAMA neurology, 2022-12, Vol.79 (12), p.1287
2022
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The American journal of cardiology, 2021-06, Vol.149, p.16-20
2021
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European journal of human genetics : EJHG, 2022-08, Vol.30 (8), p.960-966
2022
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Blood advances, 2022-08, Vol.6 (16), p.4831-4833
2022
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European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1235-1244
2021
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Journal of paediatrics and child health, 2015-12, Vol.51 (12), p.1226-1227
2015
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Genetics in medicine, 2024-03, Vol.26 (3), p.101035-101035, Article 101035
- Chopra, Maya
- Savatt, Juliann M.
- Bingaman, Taylor I.
- Good, Molly E.
- Morgan, Alexis
- Cooney, Caitlin
- Rossel, Allison M.
- VanHoute, Bryanna
- Cordova, Ineke
- Mahida, Sonal
- Lanzotti, Virginia
- Baldridge, Dustin
- Gurnett, Christina A.
- Piven, Joseph
- Hazlett, Heather
- Pomeroy, Scott L.
- Sahin, Mustafa
- Payne, Philip R.O.
- Riggs, Erin Rooney
- Constantino, John N.
- Gropman, A.
- Smith-Hicks, C.L.
- Neul, J.
- Agosto, J.A. Martinez
- German, K.
- Izumi, K.
- Abbeduto, L.
- Dawalt, L.
- Wangler, M.
- Wasserstein, M.
- Storch, Eric A.
- Cohen, J.S.
- Samaco, R.
- Molholm, S.
- Shankar, S.
- Srivastava, S.
- Walkley, S.
- Sveden, A.
- Dies, K.
- Gupta, Aditi
- Oh, Inez
- Hauck, Rachel
2024
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Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
- Lee, Eric
- Le, Trang
- Zhu, Ying
- Elakis, George
- Turner, Anne
- Lo, William
- Venselaar, Hanka
- Verrenkamp, Carol-Ann
- Snow, Nicole
- Mowat, David
- Kirk, Edwin Philip
- Sachdev, Rani
- Smith, Janine
- Brown, Natasha Jane
- Wallis, Mathew
- Barnett, Chris
- McKenzie, Fiona
- Freckmann, Mary-Louise
- Collins, Felicity
- Chopra, Maya
- Gregersen, Nerine
- Hayes, Ian
- Rajagopalan, Sulekha
- Tan, Tiong Yang
- Stark, Zornitza
- Savarirayan, Ravi
- Yeung, Alison
- Adès, Lesley
- Gattas, Michael
- Gibson, Kate
- Gabbett, Michael
- Amor, David John
- Lattanzi, Wanda
- Boyd, Simeon
- Haan, Eric
- Gianoutsos, Mark
- Cox, Timothy Chilton
- Buckley, Michael Francis
- Roscioli, Tony
2018
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Clinical genetics, 2021-10, Vol.100 (4), p.468-477
- Palmer, Elizabeth E.
- Whitton, Chloe
- Hashem, Mais O.
- Clark, Robin D.
- Ramanathan, Subhadra
- Starr, Lois J.
- Velasco, Danita
- De Dios, John Karl
- Singh, Emily
- Cormier‐Daire, Valerie
- Chopra, Maya
- Rodan, Lance H.
- Nellaker, Christoffer
- Lakhani, Shenela
- Mallack, Eric J.
- Panzer, Karin
- Sidhu, Alpa
- Wentzensen, Ingrid M.
- Lacombe, Didier
- Michaud, Vincent
- Alkuraya, Fowzan S.
2021
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Genetics in medicine, 2018-09, Vol.20 (9), p.1061-1068
- Lee, Eric
- Le, Trang
- Zhu, Ying
- Elakis, George
- Turner, Anne
- Lo, William
- Venselaar, Hanka
- Verrenkamp, Carol-Ann
- Snow, Nicole
- Mowat, David
- Kirk, Edwin Philip
- Sachdev, Rani
- Smith, Janine
- Brown, Natasha Jane
- Wallis, Mathew
- Barnett, Chris
- McKenzie, Fiona
- Freckmann, Mary-Louise
- Collins, Felicity
- Chopra, Maya
- Gregersen, Nerine
- Hayes, Ian
- Rajagopalan, Sulekha
- Tan, Tiong Yang
- Stark, Zornitza
- Savarirayan, Ravi
- Yeung, Alison
- Adès, Lesley
- Gattas, Michael
- Gibson, Kate
- Gabbett, Michael
- Amor, David John
- Lattanzi, Wanda
- Boyd, Simeon
- Haan, Eric
- Gianoutsos, Mark
- Cox, Timothy Chilton
- Buckley, Michael Francis
- Roscioli, Tony
2018
Link zum Volltext
Blood advances, 2023-08, Vol.7 (15), p.3775-3782
2023
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American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.181-186
2018
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Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.17
2024
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Therapeutic advances in rare disease, 2023-01, Vol.4, p.26330040231181406-26330040231181406
2023
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American journal of human genetics, 2020-01, Vol.106 (1)
- Carapito, Raphaël
- Ivanova, Ekaterina
- Morlon, Aurore
- Meng, Linyan
- Molitor, Anne
- Erdmann, Eva
- Kieffer, Bruno
- Pichot, Angélique
- Naegely, Lydie
- Kolmer, Aline
- Paul, Nicodème
- Hanauer, Antoine
- Tran Mau-Them, Frédéric
- Jean-Marçais, Nolwenn
- Hiatt, Susan
- Cooper, Gregory
- Tvrdik, Tatiana
- Muir, Alison
- Dimartino, Clémantine
- Chopra, Maya
- Amiel, Jeanne
- Gordon, Christopher
- Dutreux, Fabien
- Garde, Aurore
- Thauvin-Robinet, Christel
- Wang, Xia
- Leduc, Magalie
- Phillips, Meredith
- Crawford, Heather
- Kukolich, Mary
- Hunt, David
- Harrison, Victoria
- Kharbanda, Mira
- Smigiel, Robert
- Gold, Nina
- Hung, Christina
- Viskochil, David
- Dugan, Sarah
- Bayrak-Toydemir, Pinar
- Joly-Helas, Géraldine
- Guerrot, Anne-Marie
- Schluth-Bolard, Caroline
- Rio, Marlène
- Wentzensen, Ingrid M.
- Mcwalter, Kirsty
- Schnur, Rhonda
- Lewis, Andrea
- Lalani, Seema
- Mensah-Bonsu, Noël
- Céraline, Jocelyn
- Sun, Zijie
- Ploski, Rafal
- Bacino, Carlos
- Mefford, Heather
- Faivre, Laurence
- Bodamer, Olaf
- Chelly, Jamel
- Isidor, Bertrand
- Bahram, Seiamak
2020
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