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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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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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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, 2004-12, Vol.131A (2), p.127-133
2004
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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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The Journal of pediatrics, 2008-07, Vol.153 (1), p.95-100.e6
2008
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Annals of neurology, 2017-12, Vol.82 (6), p.1004-1015
- Maas, Roeltje R.
- Iwanicka‐Pronicka, Katarzyna
- Kalkan Ucar, Sema
- Alhaddad, Bader
- AlSayed, Moeenaldeen
- Al‐Owain, Mohammed A.
- Al‐Zaidan, Hamad I.
- Balasubramaniam, Shanti
- Barić, Ivo
- Bubshait, Dalal K.
- Burlina, Alberto
- Christodoulou, John
- Chung, Wendy K.
- Colombo, Roberto
- Darin, Niklas
- Freisinger, Peter
- Garcia Silva, Maria Teresa
- Grunewald, Stephanie
- Haack, Tobias B.
- van Hasselt, Peter M.
- Hikmat, Omar
- Hörster, Friederike
- Isohanni, Pirjo
- Ramzan, Khushnooda
- Kovacs‐Nagy, Reka
- Krumina, Zita
- Martin‐Hernandez, Elena
- Mayr, Johannes A.
- McClean, Patricia
- De Meirleir, Linda
- Naess, Karin
- Ngu, Lock H.
- Pajdowska, Magdalena
- Rahman, Shamima
- Riordan, Gillian
- Riley, Lisa
- Roeben, Benjamin
- Rutsch, Frank
- Santer, Rene
- Schiff, Manuel
- Seders, Martine
- Sequeira, Silvia
- Sperl, Wolfgang
- Staufner, Christian
- Synofzik, Matthis
- Taylor, Robert W.
- Trubicka, Joanna
- Tsiakas, Konstantinos
- Unal, Ozlem
- Wassmer, Evangeline
- Wedatilake, Yehani
- Wolff, Toni
- Prokisch, Holger
- Morava, Eva
- Pronicka, Ewa
- Wevers, Ron A.
- de Brouwer, Arjan P.
- Wortmann, Saskia B.
2017
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Genetics in medicine, 2019-06, Vol.21 (6), p.1295-1307
- van der Sluijs, Pleuntje J
- Jansen, Sandra
- Adachi-Fukuda, Miho
- Alanay, Yasemin
- AlKindy, Adila
- Baban, Anwar
- Bayat, Allan
- Beck-Wödl, Stefanie
- Berry, Katherine
- Bijlsma, Emilia K
- Bok, Levinus A
- Brouwer, Alwin F J
- van der Burgt, Ineke
- Campeau, Philippe M
- Canham, Natalie
- Chrzanowska, Krystyna
- Chu, Yoyo W Y
- Chung, Brain H Y
- Dahan, Karin
- De Rademaeker, Marjan
- Destree, Anne
- Dudding-Byth, Tracy
- Earl, Rachel
- Elcioglu, Nursel
- Elias, Ellen R
- Fagerberg, Christina
- Gardham, Alice
- Gerkes, Erica H
- Grasshoff, Ute
- van Haeringen, Arie
- den Hollander, Nicolette S
- Horn, Denise
- Hunt, David
- Kant, Sarina G
- Kato, Mitsuhiro
- Kayserili, Hülya
- Kersseboom, Rogier
- Kilic, Esra
- Krajewska-Walasek, Malgorzata
- Lammers, Kylin
- Laulund, Lone W
- Lederer, Damien
- Lees, Melissa
- López-González, Vanesa
- Maas, Saskia
- Mancini, Grazia M S
- Marcelis, Carlo
- Martinez, Francisco
- Maystadt, Isabelle
- McGuire, Marianne
- McKee, Shane
- Mehta, Sarju
- Metcalfe, Kay
- Milunsky, Jeff
- Mizuno, Seiji
- Moeschler, John B
- Netzer, Christian
- Ockeloen, Charlotte W
- Oehl-Jaschkowitz, Barbara
- Okamoto, Nobuhiko
- Olminkhof, Sharon N M
- Orellana, Carmen
- Pasquier, Laurent
- Pottinger, Caroline
- Riehmer, Vera
- Robertson, Stephen P
- Roifman, Maian
- Rooryck, Caroline
- Ropers, Fabienne G
- Rosello, Monica
- Ruivenkamp, Claudia A L
- Sagiroglu, Mahmut S
- Sallevelt, Suzanne C E H
- Sanchis Calvo, Amparo
- Simsek-Kiper, Pelin O
- Soares, Gabriela
- Solaeche, Lucia
- Sonmez, Fatma Mujgan
- Splitt, Miranda
- Steenbeek, Duco
- Stegmann, Alexander P A
- Tanabe, Saori
- Uctepe, Eyyup
- Utine, G Eda
- Veenstra-Knol, Hermine E
- Venkateswaran, Sunita
- Vilain, Catheline
- Vincent-Delorme, Catherine
- Vulto-van Silfhout, Anneke T
- Wheeler, Patricia
- Wilson, Golder N
- Wilson, Louise C
- Wollnik, Bernd
- Kosho, Tomoki
- Wieczorek, Dagmar
- Eichler, Evan
- Pfundt, Rolph
- de Vries, Bert B A
- Clayton-Smith, Jill
- Santen, Gijs W E
2019
Link zum Volltext
American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3194-3203
2007
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- American Journal Of Medical Genetics. Part A
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