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Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 41 - 41
Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous... 
1q21.1 microdeletion syndrome | Bartsocas-Papas syndrome | CHUK | Cocoon syndrome | AEC | DEFECTS | RIPK4 | DISORDERS | GENETICS & HEREDITY | MALFORMATION | INTEGRATIVE GENOMICS VIEWER | COHORT | MUTATIONS | SPECTRUM | ASSOCIATION | Cleft Palate - diagnosis | Cleft Lip - diagnosis | Genetic Testing | Immunoglobulin G - blood | Humans | Eyelids - abnormalities | Child, Preschool | Male | Cleft Palate - genetics | Mutation, Missense | Genetic Variation | Microarray Analysis | Tumor Suppressor Proteins - genetics | Chromosomes, Human, Pair 1 - genetics | Immunologic Deficiency Syndromes - diagnosis | Abnormalities, Multiple - genetics | Chromosome Deletion | Megalencephaly - genetics | Amino Acid Sequence | Eye Abnormalities - diagnosis | Gene Frequency | Ectodermal Dysplasia - diagnosis | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | I-kappa B Kinase - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Cleft Lip - genetics | Phenotype | Pedigree | Immunologic Deficiency Syndromes - genetics | Heterozygote | Ectodermal Dysplasia - genetics | Genetic disorders | Genetic variation | Immunological deficiency syndromes | Genetic aspects | Research | Ectodermal dysplasia | Infection | Dysplasia | DNA microarrays | Immunodeficiency | Development and progression | Skin | Health aspects | Index Medicus | Bartsocas–Papas syndrome
Journal Article
The Journal of General Physiology, ISSN 0022-1295, 11/2015, Volume 146, Issue 5, pp. 399 - 410
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 744 - 759
Journal Article
The Plant Cell, ISSN 1040-4651, 1/2012, Volume 24, Issue 1, pp. 275 - 287
Journal Article
by Van Dijck, Anke and Vulto-van Silfhout, Anneke T and Cappuyns, Elisa and van der Werf, Ilse M and Mancini, Grazia M and Tzschach, Andreas and Bernier, Raphael and Gozes, Illana and Eichler, Evan E and Romano, Corrado and Lindstrand, Anna and Nordgren, Ann and Bakshi, Madhura and Wilson, Meredith and Berman, Yemina and Dickson, Rebecca and Fransen, Erik and Helsmoortel, Céline and Van den Ende, Jenneke and Van der Aa, Nathalie and van de Wijdeven, Marina J and Rosenblum, Jessica and Monteiro, Fabíola and Kok, Fernando and Quercia, Nada and Bowdin, Sarah and Dyment, David and Chitayat, David and Alkhunaizi, Ebba and Boonen, Susanne E and Keren, Boris and Jacquette, Aurelia and Faivre, Laurence and Bezieau, Stephane and Isidor, Bertrand and Rieß, Angelika and Moog, Ute and Lynch, Sally Ann and McVeigh, Terri and Elpeleg, Orly and Smeland, Marie Falkenberg and Fannemel, Madeleine and van Haeringen, Arie and Maas, Saskia M and Veenstra-Knol, H.E and Schouten, Meyke and Willemsen, Marjolein H and Marcelis, Carlo L and Ockeloen, Charlotte and van der Burgt, Ineke and Feenstra, Ilse and van der Smagt, Jasper and Jezela-Stanek, Aleksandra and Krajewska-Walasek, Malgorzata and González-Lamuño, Domingo and Anderlid, Britt-Marie and Malmgren, Helena and Nordenskjöld, Magnus and Clement, Emma and Hurst, Jane and Metcalfe, Kay and Mansour, Sahar and Lachlan, Katherine and Clayton-Smith, Jill and Hendon, Laura G and Abdulrahman, Omar A and Morrow, Eric and McMillan, Clare and Gerdts, Jennifer and Peeden, Joseph and Schrier Vergano, Samantha A and Valentino, Caitlin and Chung, Wendy K and Ozmore, Jillian R and Bedrosian-Sermone, Sandra and Dennis, Anna and Treat, Kayla and Hughes, Susan Starling and Safina, Nicole and Le Pichon, Jean-Baptiste and McGuire, Marianne and Infante, Elena and Madan-Khetarpal, Suneeta and Desai, Sonal and Benke, Paul and Krokosky, Alyson and Cristian, Ingrid and Baker, Laura and Gripp, Karen and Stessman, Holly A and Eichenberger, Jacob and Jayakar, Parul and Pizzino, Amy and Manning, Melanie Ann and Slattery, Leah and Kvarnung, Malin and Kleefstra, Tjitske and de Vries, Bert B.A and Küry, Sébastien and Rosenfeld, Jill A and ... and ADNP Consortium
Biological Psychiatry, ISSN 0006-3223, 02/2019, Volume 85, Issue 4, pp. 287 - 297
In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the gene are consistently reported among the... 
Autism | Genetics | Helsmoortel-Van der Aa syndrome | Intellectual disability | ADNP | Neurodevelopmental disorder | DEPENDENT NEUROPROTECTIVE PROTEIN | PHENOTYPE | RISK | DEFINE | NEUROSCIENCES | DE-NOVO MUTATIONS | GENES
Journal Article