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The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 468 - 479
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 12/2013, Volume 56, Issue 12, pp. 689 - 694
Walker-Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked... 
Dystroglycanopathy | Hydrocephalus | ISPD | Cerebellar hypoplasia | Corpus callosum agenesis | Seizures | Walker-Warburg syndrome
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2015, Volume 23, Issue 6, pp. 753 - 760
Journal Article
Journal Article
Brain, ISSN 0006-8950, 08/2018, Volume 141, Issue 8, pp. 2299 - 2311
BCL11B is a transcriptional regulator of various developmental processes, and a BCL11B mutation has previously been reported in a single patient with syndromic... 
Neurodevelopment | Type 2 innate lymphoid cells | Intellectual disability | BCL11B | Developmental delay | HOMEOSTASIS | type 2 innate lymphoid cells | neurodevelopment | TRANSCRIPTION FACTOR BCL11B | developmental delay | DIFFERENTIATION | NEUROSCIENCES | intellectual disability | CLINICAL NEUROLOGY | Original
Journal Article
Human Genetics, ISSN 0340-6717, 2017, Volume 136, Issue 7, pp. 821 - 834
Journal Article
by Reijnders, Margot R.F and Miller, Kerry A and Alvi, Mohsan and Goos, Jacqueline A.C and Lees, Melissa M and de Burca, Anna and Henderson, Alex and Kraus, Alison and Mikat, Barbara and de Vries, Bert B.A and Isidor, Bertrand and Kerr, Bronwyn and Marcelis, Carlo and Schluth-Bolard, Caroline and Deshpande, Charu and Ruivenkamp, Claudia A.L and Wieczorek, Dagmar and Baralle, Diana and Blair, Edward M and Engels, Hartmut and Lüdecke, Hermann-Josef and Eason, Jacqueline and Santen, Gijs W.E and Clayton-Smith, Jill and Chandler, Kate and Tatton-Brown, Katrina and Payne, Katelyn and Helbig, Katherine and Radtke, Kelly and Nugent, Kimberly M and Cremer, Kirsten and Strom, Tim M and Bird, Lynne M and Sinnema, Margje and Bitner-Glindzicz, Maria and van Dooren, Marieke F and Alders, Marielle and Koopmans, Marije and Brick, Lauren and Kozenko, Mariya and Harline, Megan L and Klaassens, Merel and Steinraths, Michelle and Cooper, Nicola S and Edery, Patrick and Yap, Patrick and Terhal, Paulien A and van der Spek, Peter J and Lakeman, Phillis and Taylor, Rachel L and Littlejohn, Rebecca O and Pfundt, Rolph and Mercimek-Andrews, Saadet and Stegmann, Alexander P.A and Kant, Sarina G and McLean, Scott and Joss, Shelagh and Swagemakers, Sigrid M.A and Douzgou, Sofia and Wall, Steven A and Küry, Sébastien and Calpena, Eduardo and Koelling, Nils and McGowan, Simon J and Twigg, Stephen R.F and Mathijssen, Irene M.J and Nellaker, Christoffer and Brunner, Han G and Wilkie, Andrew O.M and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
Journal Article
Human Genetics, ISSN 0340-6717, 6/2015, Volume 134, Issue 6, pp. 553 - 568
Journal Article