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The Journal of pediatrics, 2017-11, Vol.190, p.130-135
2017
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PloS one, 2019-10, Vol.14 (10), p.e0223603
2019
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American journal of human genetics, 2015-05, Vol.96 (5), p.816-825
- Niceta, Marcello
- Stellacci, Emilia
- Gripp, Karen W
- Zampino, Giuseppe
- Kousi, Maria
- Anselmi, Massimiliano
- Traversa, Alice
- Ciolfi, Andrea
- Stabley, Deborah
- Bruselles, Alessandro
- Caputo, Viviana
- Cecchetti, Serena
- Prudente, Sabrina
- Fiorenza, Maria T
- Boitani, Carla
- Philip, Nicole
- Niyazov, Dmitriy
- Leoni, Chiara
- Nakane, Takaya
- Keppler-Noreuil, Kim
- Braddock, Stephen R
- Gillessen-Kaesbach, Gabriele
- Palleschi, Antonio
- Campeau, Philippe M
- Lee, Brendan H L
- Pouponnot, Celio
- Stella, Lorenzo
- Bocchinfuso, Gianfranco
- Katsanis, Nicholas
- Sol-Church, Katia
- Tartaglia, Marco
2015
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Pediatrics (Evanston), 2020-02, Vol.145 (2), p.1
2020
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American journal of human genetics, 2016-03, Vol.98 (3), p.579-587
- Bennett, James T.
- Tan, Tiong Yang
- Alcantara, Diana
- Tétrault, Martine
- Timms, Andrew E.
- Jensen, Dana
- Collins, Sarah
- Nowaczyk, Malgorzata J.M.
- Lindhurst, Marjorie J.
- Christensen, Katherine M.
- Braddock, Stephen R.
- Brandling-Bennett, Heather
- Hennekam, Raoul C.M.
- Chung, Brian
- Lehman, Anna
- Su, John
- Ng, SuYuen
- Amor, David J.
- Majewski, Jacek
- Biesecker, Les G.
- Boycott, Kym M.
- Dobyns, William B.
- O’Driscoll, Mark
- Moog, Ute
- McDonell, Laura M.
2016
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American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.969-972
2018
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American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.455-466
2019
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American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.877-942
2020
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Arthritis & rheumatology (Hoboken, N.J.), 2022-04, Vol.74 (4), p.711-724
- Chambers, Christina D.
- Johnson, Diana L.
- Xu, Ronghui
- Luo, Yunjun
- Felix, Robert
- Fine, Minh
- Lessard, Chloe
- Adam, Margaret P.
- Braddock, Stephen R.
- Robinson, Luther K.
- Burke, Leah
- Jones, Kenneth Lyons
- Quinn, D.
- Stallman, C.
- Kao, K.
- Bertrand, K.
- Brochu, J.
- Lavigne, S.
- Conover, E.
- Cole, P.
- Roth, M.
- Harris‐Sagaribay, L.
- Wolfe, L.
- Carey, J.
- Romeo, A.
- Pupco, A.
- Ito, S.
- Coles, C.
2022
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The Journal of pediatrics, 2019-11, Vol.214, p.165-167.e1
2019
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American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.785-791
2020
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.532-547
- Cyrus, Sharri S.
- Cohen, Ana S. A.
- Agbahovbe, Ruky
- Avela, Kristiina
- Yeung, Kit S.
- Chung, Brian H. Y.
- Luk, Ho‐Ming
- Tkachenko, Nataliya
- Choufani, Sanaa
- Weksberg, Rosanna
- Lopez‐Rangel, Elena
- Brown, Kathleen
- Saenz, Margarita S.
- Svihovec, Shayna
- McCandless, Shawn E.
- Bird, Lynne M.
- Garcia, Aixa Gonzalez
- Gambello, Michael J.
- McWalter, Kirsty
- Schnur, Rhonda E.
- An, Jianghong
- Jones, Steven J. M.
- Bhalla, Sanjiv K.
- Pinz, Hailey
- Braddock, Stephen R.
- Gibson, William T.
2019
Link zum Volltext
Human molecular genetics, 2023-01, Vol.32 (3), p.353-356
- Guimier, Anne
- de Pontual, Loïc
- Braddock, Stephen R
- Torti, Erin
- Pérez-Jurado, Luis A
- Muñoz-Cabello, Patricia
- Arumí, Montserrat
- Monaghan, Kristin G
- Lee, Hane
- Wang, Lee-Kai
- Pluym, Ilina D
- Lynch, Sally Ann
- Stals, Karen
- Ellard, Sian
- Muller, Cécile
- Houyel, Lucile
- Cohen, Laurence
- Lyonnet, Stanislas
- Bajolle, Fanny
- Amiel, Jeanne
- Gordon, Christopher T
2023
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Journal of medical genetics, 2015-09, Vol.52 (9), p.627-635
2015
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American journal of medical genetics. Part C, Seminars in medical genetics, 2016-09, Vol.172C (3), p.264-271
2016
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The journal of clinical endocrinology and metabolism, 2012-02, Vol.97 (2), p.E257-E267
- Krone, Nils
- Reisch, Nicole
- Idkowiak, Jan
- Dhir, Vivek
- Ivison, Hannah E
- Hughes, Beverly A
- Rose, Ian T
- O'Neil, Donna M
- Vijzelaar, Raymon
- Smith, Matthew J
- MacDonald, Fiona
- Cole, Trevor R
- Adolphs, Nicolai
- Barton, John S
- Blair, Edward M
- Braddock, Stephen R
- Collins, Felicity
- Cragun, Deborah L
- Dattani, Mehul T
- Day, Ruth
- Dougan, Shelley
- Feist, Miriam
- Gottschalk, Michael E
- Gregory, John W
- Haim, Michaela
- Harrison, Rachel
- Haskins Olney, Ann
- Hauffa, Berthold P
- Hindmarsh, Peter C
- Hopkin, Robert J
- Jira, Petr E
- Kempers, Marlies
- Kerstens, Michiel N
- Khalifa, Mohamed M
- Köhler, Birgit
- Maiter, Dominique
- Nielsen, Shelly
- O'Riordan, Stephen M
- Roth, Christian L
- Shane, Kate P
- Silink, Martin
- Stikkelbroeck, Nike M. M. L
- Sweeney, Elizabeth
- Szarras-Czapnik, Maria
- Waterson, John R
- Williamson, Lori
- Hartmann, Michaela F
- Taylor, Norman F
- Wudy, Stefan A
- Malunowicz, Ewa M
- Shackleton, Cedric H. L
- Arlt, Wiebke
2012
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The Journal of pediatrics, 2016-08, Vol.175, p.231-232
2016
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Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.73-73, Article 73
2020
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Annals of allergy, asthma, & immunology, 2019-02, Vol.122 (2), p.222-223
2019
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International journal of neonatal screening, 2020-03, Vol.6 (1), p.4-4
2020
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2580-2586
2016
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American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.817-821
2019
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Clinical case reports, 2021-03, Vol.9 (3), p.1518-1523
2021
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American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1992-1998
2013
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Developmental neurorehabilitation, 2015-09, Vol.18 (5), p.322-329
2015
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