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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 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
Link zum Volltext
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, 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, 2000, Vol.15 (5), p.418-429
2000
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Regulatory Regions in the Rat Lactase-Phlorizin Hydrolase Gene that Control Cell-Specific Expression
2004
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Prenatal diagnosis, 2017-02, Vol.37 (2), p.162-167
2017
Link zum Volltext
Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229
- Brioude, Frédéric
- Kalish, Jennifer M
- Mussa, Alessandro
- Foster, Alison C
- Bliek, Jet
- Ferrero, Giovanni Battista
- Boonen, Susanne E
- Cole, Trevor
- Baker, Robert
- Bertoletti, Monica
- Cocchi, Guido
- Coze, Carole
- De Pellegrin, Maurizio
- Hussain, Khalid
- Ibrahim, Abdulla
- Kilby, Mark D
- Krajewska-Walasek, Malgorzata
- Kratz, Christian P
- Ladusans, Edmund J
- Lapunzina, Pablo
- Le Bouc, Yves
- Maas, Saskia M
- Macdonald, Fiona
- Õunap, Katrin
- Peruzzi, Licia
- Rossignol, Sylvie
- Russo, Silvia
- Shipster, Caroleen
- Skórka, Agata
- Tatton-Brown, Katrina
- Tenorio, Jair
- Tortora, Chiara
- Grønskov, Karen
- Netchine, Irène
- Hennekam, Raoul C
- Prawitt, Dirk
- Tümer, Zeynep
- Eggermann, Thomas
- Mackay, Deborah J G
- Riccio, Andrea
- Maher, Eamonn R
2018
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Pediatric and developmental pathology, 2000-11, Vol.3 (6), p.597-602
2000
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The Journal of pediatrics, 2008-07, Vol.153 (1), p.95-100.e6
2008
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Regulatory Regions in the Rat Lactase‐Phlorizin Hydrolase Gene that Control Cell‐Specific Expression
2004
Link zum Volltext
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
2021
Link zum Volltext
Human mutation, 2000-05, Vol.15 (5), p.418-429
2000
Link zum Volltext
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