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European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.949-953
2016
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Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.197-197, Article 197
2014
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Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.23-23, Article 23
2015
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Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.368-381
2012
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Analytical chemistry (Washington), 2021-11, Vol.93 (46), p.15340-15348
2021
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Developmental medicine and child neurology, 2021-03, Vol.63 (3), p.243-243
2021
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Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.15-15
2014
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American journal of human genetics, 2016-01, Vol.98 (1), p.202-209
- Stray-Pedersen, Asbjørg
- Cobben, Jan-Maarten
- Prescott, Trine E.
- Lee, Sora
- Cang, Chunlei
- Aranda, Kimberly
- Ahmed, Sohnee
- Alders, Marielle
- Gerstner, Thorsten
- Aslaksen, Kathinka
- Tétreault, Martine
- Qin, Wen
- Hartley, Taila
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Tarailo-Graovac, Maja
- van Karnebeek, Clara D.M.
- Lupski, James R.
- Ren, Dejian
- Yoon, Grace
2016
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Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.335-344
- van Karnebeek, Clara D.M.
- Hartmann, Hans
- Jaggumantri, Sravan
- Bok, Levinus A.
- Cheng, Barb
- Connolly, Mary
- Coughlin, Curtis R.
- Das, Anibh M.
- Gospe, Sidney M.
- Jakobs, Cornelis
- van der Lee, Johanna H.
- Mercimek-Mahmutoglu, Saadet
- Meyer, Uta
- Struys, Eduard
- Sinclair, Graham
- Van Hove, Johan
- Collet, Jean-Paul
- Plecko, Barbara R.
- Stockler, Sylvia
2012
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American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.712-715
2017
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Paediatrics & child health, 2014-11, Vol.19 (9), p.469-471
2014
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EMBO molecular medicine, 2024-01, Vol.16 (1), p.4-7
2024
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Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.1
2022
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European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1301-1307
2015
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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192
- Coughlin, Curtis R.
- Tseng, Laura A.
- Abdenur, Jose E.
- Ashmore, Catherine
- Boemer, François
- Bok, Levinus A.
- Boyer, Monica
- Buhas, Daniela
- Clayton, Peter T.
- Das, Anibh
- Dekker, Hanka
- Evangeliou, Athanasios
- Feillet, François
- Footitt, Emma J.
- Gospe, Sidney M.
- Hartmann, Hans
- Kara, Majdi
- Kristensen, Erle
- Lee, Joy
- Lilje, Rina
- Longo, Nicola
- Lunsing, Roelineke J.
- Mills, Philippa
- Papadopoulou, Maria T.
- Pearl, Phillip L.
- Piazzon, Flavia
- Plecko, Barbara
- Saini, Arushi G.
- Santra, Saikat
- Sjarif, Damayanti R.
- Stockler‐Ipsiroglu, Sylvia
- Striano, Pasquale
- Van Hove, Johan L.K.
- Verhoeven‐Duif, Nanda M.
- Wijburg, Frits A.
- Zuberi, Sameer M.
- Karnebeek, Clara D.M.
2021
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Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.mcs.a006197
2022
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Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.38-38, Article 38
2015
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American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.670-675
- Schuurs-Hoeijmakers, Janneke H. M.
- Landsverk, Megan L.
- Foulds, Nicola
- Kukolich, Mary K.
- Gavrilova, Ralitza H.
- Greville-Heygate, Stephanie
- Hanson-Kahn, Andrea
- Bernstein, Jonathan A.
- Glass, Jennifer
- Chitayat, David
- Burrow, Thomas A.
- Husami, Ammar
- Collins, Kathleen
- Wusik, Katie
- van der Aa, Nathalie
- Kooy, Frank
- Brown, Kate Tatton
- Gadzicki, Dorothea
- Kini, Usha
- Alvarez, Sara
- Fernández-Jaén, Alberto
- McGehee, Frank
- Selby, Katherine
- Tarailo-Graovac, Maja
- Van Allen, Margot
- van Karnebeek, Clara D. M.
- Stavropoulos, Dimitri J.
- Marshall, Christian R.
- Merico, Daniele
- Gregor, Anne
- Zweier, Christiane
- Hopkin, Robert J.
- Chu, Yoyo Wing-Yiu
- Chung, Brian Hon-Yin
- de Vries, Bert B. A.
- Devriendt, Koenraad
- Hurles, Matthew E.
- Brunner, Han G.
2016
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JCI insight, 2018-12, Vol.3 (24)
- Wen, Xiao-Yan
- Tarailo-Graovac, Maja
- Brand-Arzamendi, Koroboshka
- Willems, Anke
- Rakic, Bojana
- Huijben, Karin
- Da Silva, Afitz
- Pan, Xuefang
- El-Rass, Suzan
- Ng, Robin
- Selby, Katheryn
- Philip, Anju Mary
- Yun, Junghwa
- Ye, X Cynthia
- Ross, Colin J
- Lehman, Anna M
- Zijlstra, Fokje
- Abu Bakar, N
- Drögemöller, Britt
- Moreland, Jacqueline
- Wasserman, Wyeth W
- Vallance, Hilary
- van Scherpenzeel, Monique
- Karbassi, Farhad
- Hoskings, Martin
- Engelke, Udo
- de Brouwer, Arjan
- Wevers, Ron A
- Pshezhetsky, Alexey V
- van Karnebeek, Clara Dm
- Lefeber, Dirk J
2018
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A9-A10
2015
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Cold Spring Harbor molecular case studies, 2022-02, p.mcs.a006185
2022
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Human mutation, 2018-07, Vol.39 (7), p.947-953
2018
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A9-A9
2015
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A3-A4
2015
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Human mutation, 2014-05, Vol.35 (5), p.521-531
- Sukalo, Maja
- Fiedler, Ariane
- Guzmán, Celina
- Spranger, Stephanie
- Addor, Marie-Claude
- Mcheik, Jiad N.
- Oltra Benavent, Manuel
- Cobben, Jan M.
- Gillis, Lynette A.
- Shealy, Amy G.
- Deshpande, Charu
- Bozorgmehr, Bita
- Everman, David B.
- Stattin, Eva-Lena
- Liebelt, Jan
- Keller, Klaus-Michael
- Bertola, Débora Romeo
- van Karnebeek, Clara D.M.
- Bergmann, Carsten
- Liu, Zhifeng
- Düker, Gesche
- Rezaei, Nima
- Alkuraya, Fowzan S.
- Oğur, Gönül
- Alrajoudi, Abdullah
- Venegas-Vega, Carlos A.
- Verbeek, Nienke E.
- Richmond, Erick J.
- Kirbiyik, Özgür
- Ranganath, Prajnya
- Singh, Ankur
- Godbole, Koumudi
- Ali, Fouad A. M.
- Alves, Crésio
- Mayerle, Julia
- Lerch, Markus M.
- Witt, Heiko
- Zenker, Martin
2014
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- Orphanet Journal Of Rare Diseases
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- European Journal Of Human Genetics : Ejhg
- Human Mutation
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