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Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 09/2019, Volume 62, Issue 9, p. 103555
The gene, widely expressed in the brain, encodes a voltage-gated potassium channel (Kv7.5) important for neuronal function. Here, we report a novel intragenic... 
Array-CGH | Absence epilepsy in adolescence | Intellectual disability | Duplication | Exon skipping | 6q13 | GENETICS & HEREDITY | MUTATIONS | EPILEPSY
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 8, pp. 1211 - 1215
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2014, Volume 164A, Issue 12, pp. 3100 - 3107
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 894 - 904
ABSTRACT TP63 germ‐line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of... 
ectodermal dysplasia | TP63 | yeast | transactivation | Yeast | Transactivation | Ectodermal dysplasia | DNA-BINDING DOMAIN | GERM-LINE | OVERLAPPING FEATURES | PHENOTYPE | MAMMARY SYNDROME | HAY-WELLS | GENE | GENETICS & HEREDITY | P53 MUTANTS | TRANSCRIPTION FACTOR | CELL | Limb Deformities, Congenital - genetics | Proto-Oncogene Proteins c-mdm2 - genetics | Transcription Factors - chemistry | Humans | Pigmentation Disorders - metabolism | Cleft Palate - genetics | Lacrimal Duct Obstruction - genetics | Breast - metabolism | Tumor Suppressor Protein p53 - genetics | Anodontia - genetics | Lacrimal Duct Obstruction - metabolism | Ectodermal Dysplasia - metabolism | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Trans-Activators - genetics | Apoptosis Regulatory Proteins - genetics | Germ-Line Mutation | Anodontia - metabolism | bcl-2-Associated X Protein - genetics | Yeasts - metabolism | Cell Line | Tumor Suppressor Proteins - metabolism | Genetic Association Studies | Nails, Malformed - metabolism | Response Elements | HCT116 Cells | Gene Expression Regulation | Limb Deformities, Congenital - metabolism | Proto-Oncogene Proteins - genetics | Transcription Factors - genetics | Cleft Lip - metabolism | Pigmentation Disorders - genetics | Nails, Malformed - genetics | Transcription Factors - metabolism | Yeasts - genetics | Cleft Lip - genetics | Phenotype | Breast - abnormalities | Protein Isoforms | Alleles | Trans-Activators - metabolism | Cleft Palate - metabolism | Ectodermal Dysplasia - genetics | Mutation | Amino Acid Substitution | Proteins | Analysis | Genetic aspects | Crystal structure | Index Medicus
Journal Article
Journal Article