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American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2248-2260
2016
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The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.415-428
2018
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693
- Menke, Leonie A.
- van Belzen, Martine J.
- Alders, Marielle
- Cristofoli, Francesca
- Ehmke, Nadja
- Fergelot, Patricia
- Foster, Alison
- Gerkes, Erica H.
- Hoffer, Mariëtte J. V.
- Horn, Denise
- Kant, Sarina G.
- Lacombe, Didier
- Leon, Eyby
- Maas, Saskia M.
- Melis, Daniela
- Muto, Valentina
- Park, Soo-Mi
- Peeters, Hilde
- Peters, Dorien J. M.
- Pfundt, Rolph
- van Ravenswaaij-Arts, Conny M. A.
- Tartaglia, Marco
- Hennekam, Raoul C. M.
2016
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Neurology, 2019-01, Vol.92 (2), p.e96
- Vlaskamp, Danique R M
- Shaw, Benjamin J
- Burgess, Rosemary
- Mei, Davide
- Montomoli, Martino
- Xie, Han
- Myers, Candace T
- Bennett, Mark F
- XiangWei, Wenshu
- Williams, Danielle
- Maas, Saskia M
- Brooks, Alice S
- Mancini, Grazia M S
- van de Laar, Ingrid M B H
- van Hagen, Johanna M
- Ware, Tyson L
- Webster, Richard I
- Malone, Stephen
- Berkovic, Samuel F
- Kalnins, Renate M
- Sicca, Federico
- Korenke, G Christoph
- van Ravenswaaij-Arts, Conny M A
- Hildebrand, Michael S
- Mefford, Heather C
- Jiang, Yuwu
- Guerrini, Renzo
- Scheffer, Ingrid E
2019
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Journal of medical genetics, 2013-05, Vol.50 (5), p.339-344
2013
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Journal of allergy and clinical immunology, 2022-03, Vol.149 (3), p.1120-1127.e8
2022
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Genetics in medicine, 2019-08, Vol.21 (8), p.1808-1820
- Valente, Federica Maria
- Sparago, Angela
- Freschi, Andrea
- Hill-Harfe, Katherine
- Maas, Saskia M
- Frints, Suzanna Gerarda Maria
- Alders, Marielle
- Pignata, Laura
- Franzese, Monica
- Angelini, Claudia
- Carli, Diana
- Mussa, Alessandro
- Gazzin, Andrea
- Gabbarini, Fulvio
- Acurzio, Basilia
- Ferrero, Giovanni Battista
- Bliek, Jet
- Williams, Charles A
- Riccio, Andrea
- Cerrato, Flavia
2019
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The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E356-E359
2011
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The Cleft palate-craniofacial journal, 2023-09, Vol.60 (9), p.1118-1127
2023
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Human mutation, 2018-09, Vol.39 (9), p.1226-1237
- Priolo, Manuela
- Schanze, Denny
- Tatton‐Brown, Katrin
- Mulder, Paul A.
- Tenorio, Jair
- Kooblall, Kreepa
- Acero, Inés Hernández
- Alkuraya, Fowzan S.
- Arias, Pedro
- Bernardini, Laura
- Bijlsma, Emilia K.
- Cole, Trevor
- Coubes, Christine
- Dapia, Irene
- Davies, Sally
- Di Donato, Nataliya
- Elcioglu, Nursel H.
- Fahrner, Jill A.
- Foster, Alison
- González, Noelia García
- Huber, Ilka
- Iascone, Maria
- Kaiser, Ann‐Sophie
- Kamath, Arveen
- Liebelt, Jan
- Lynch, Sally Ann
- Maas, Saskia M.
- Mammì, Corrado
- Mathijssen, Inge B.
- McKee, Shane
- Menke, Leonie A.
- Mirzaa, Ghayda M.
- Montgomery, Tara
- Neubauer, Dorothee
- Neumann, Thomas E.
- Pintomalli, Letizia
- Pisanti, Maria Antonietta
- Plomp, Astrid S.
- Price, Sue
- Salter, Claire
- Santos‐Simarro, Fernando
- Sarda, Pierre
- Segovia, Mabel
- Shaw‐Smith, Charles
- Smithson, Sarah
- Suri, Mohnish
- Valdez, Rita Maria
- Haeringen, Arie
- Hagen, Johanna M.
- Zollino, Marcela
- Lapunzina, Pablo
- Thakker, Rajesh V.
- Zenker, Martin
- Hennekam, Raoul C.
2018
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Human mutation, 2019-12, Vol.40 (12), p.2270-2285
- Frints, Suzanna G.M.
- Hennig, Friederike
- Colombo, Roberto
- Jacquemont, Sebastien
- Terhal, Paulien
- Zimmerman, Holly H.
- Hunt, David
- Mendelsohn, Bryce A.
- Kordaß, Ulrike
- Webster, Richard
- Sinnema, Margje
- Abdul‐Rahman, Omar
- Suckow, Vanessa
- Fernández‐Jaén, Alberto
- Roozendaal, Kees
- Stevens, Servi J.C.
- Macville, Merryn V.E.
- Al‐Nasiry, Salwan
- Gassen, Koen
- Utzig, Norbert
- Koudijs, Suzanne M.
- McGregor, Lesley
- Maas, Saskia M.
- Baralle, Diana
- Dixit, Abhijit
- Wieacker, Peter
- Lee, Marcus
- Lee, Arthur S.
- Engle, Elizabeth C.
- Houge, Gunnar
- Gradek, Gyri A.
- Douglas, Andrew G.L.
- Longman, Cheryl
- Joss, Shelagh
- Velasco, Danita
- Hennekam, Raoul C.
- Hirata, Hiromi
- Kalscheuer, Vera M.
2019
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Human reproduction (Oxford), 2007-09, Vol.22 (9), p.2476-2480
2007
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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
2021
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American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2625-2630
2006
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2562-2565
2017
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American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.1983-1992
2015
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Human mutation, 2013-03, Vol.34 (3), p.430-434
2013
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American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1066-1072
2011
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Prenatal diagnosis, 2017-02, Vol.37 (2), p.162-167
2017
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American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1215-1222
2015
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Human molecular genetics, 2001-03, Vol.10 (5), p.467-476
2001
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American journal of medical genetics, 2004-12, Vol.131A (2), p.127-133
2004
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
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Molecular psychiatry, 2017-06, Vol.22 (6), p.836-849
- Loviglio, M N
- Leleu, M
- Männik, K
- Passeggeri, M
- Giannuzzi, G
- van der Werf, I
- Waszak, S M
- Zazhytska, M
- Roberts-Caldeira, I
- Gheldof, N
- Migliavacca, E
- Alfaiz, A A
- Hippolyte, L
- Maillard, A M
- Van Dijck, A
- Kooy, R F
- Sanlaville, D
- Rosenfeld, J A
- Shaffer, L G
- Andrieux, J
- Marshall, C
- Scherer, S W
- Shen, Y
- Gusella, J F
- Thorsteinsdottir, U
- Thorleifsson, G
- Dermitzakis, E T
- Deplancke, B
- Beckmann, J S
- Rougemont, J
- Jacquemont, S
- Reymond, A
2017
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Human mutation, 2000, Vol.15 (5), p.418-429
2000
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