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Nature Cell Biology, ISSN 1465-7392, 09/2012, Volume 14, Issue 9, pp. 911 - 923
Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are... 
INFANTILE SPASMS | PROTEIN | RETT-SYNDROME | MENTAL-RETARDATION | GENE | PHOSPHORYLATION | ADHESION MOLECULES | MUTATIONS | EPILEPTIC ENCEPHALOPATHY | INTERSTITIAL DELETION | CELL BIOLOGY | Disks Large Homolog 4 Protein | Phosphorylation | Humans | Spine - metabolism | Cercopithecus aethiops | Molecular Sequence Data | Dendritic Spines - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Synapses - genetics | Excitatory Postsynaptic Potentials - physiology | Synapses - metabolism | HEK293 Cells | Neurons - physiology | Female | Membrane Proteins - metabolism | Neurons - metabolism | Spine - pathology | Intracellular Signaling Peptides and Proteins - genetics | Excitatory Postsynaptic Potentials - genetics | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Cell Adhesion - genetics | Membrane Proteins - genetics | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Receptors, Cell Surface - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Rett Syndrome - metabolism | Animals | Cell Adhesion - physiology | Dendritic Spines - pathology | Rett Syndrome - pathology | Glutamic Acid - metabolism | Mice | Mutation | Rett Syndrome - genetics | COS Cells | Receptors, Cell Surface - genetics | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Protein kinases | Synapses | Index Medicus
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 7, pp. 659 - 668
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 1021 - 1026
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1176 - 1187
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 729 - 735
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2012, Volume 109, Issue 36, pp. 14514 - 14519
Journal Article
Molecular Cell, ISSN 1097-2765, 06/2013, Volume 50, Issue 6, pp. 831 - 843
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 10730 - 11
The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during... 
INACTIVATION | MENTAL-RETARDATION | VARIANTS | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | CANDIDATE GENE | WHOLE-EXOME | MUTATIONS | LINKED DYSTONIA-PARKINSONISM | EXPRESSION | GENOME | Zebrafish | Embryogenesis | TATA-binding protein | Neurodevelopmental disorders | Gene expression | Intellectual disabilities | Index Medicus
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1057 - 1062
Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been... 
SEMA3D | SEMA3A | PIK3CG | chromothripsis | Moebius syndrome | COMPLEX | REPAIR | GENE | MOBIUS-SYNDROME | GENETICS & HEREDITY | CHROMOSOME-13 | PATIENT | Genetic research | Mortgage-backed securities | Genetic disorders | Breakpoints | Paralysis | Semaphorins | Nerves | Index Medicus
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 01/2018, Volume 24, Issue 7, pp. 1 - 13
Journal Article