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American journal of medical genetics. Part A, ISSN 1552-4825, 12/2019
Kabuki syndrome is a rare, multi-systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and... 
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 11/2016, Volume 92, Issue 4, pp. 813 - 828
Journal Article
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 2009, Volume 16, Issue 3, pp. 120 - 126
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorders caused by mutations of... 
Pediatrics | Neurology | PEDIATRICS | CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Animals | Microcephaly - genetics | Humans | Microcephaly - pathology | Lissencephaly - genetics | Lissencephaly - pathology | Cerebral palsy | Epilepsy | Encephalopathy | Medical genetics | Children | Mental illness | Diseases
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1240 - 1257
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 9, pp. 847 - 858
A 10-month-old boy with microcephaly and developmental delay was admitted to the hospital because of episodes of respiratory distress and cyanosis.... 
Babies | Myelination | Microencephaly | Magnetic resonance imaging | Amino acids | Medical diagnosis | Medical screening | Metabolic disorders
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1348 - 1354
Aminoacyl‐transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl‐tRNA synthetase (AARS)... 
microcephaly | hypomyelination | transfer RNA | aminoacylation defect | AARS | MARIE-TOOTH-DISEASE | NEUROPATHY | AARS MUTATION | ATROPHY | GENETICS & HEREDITY | MEDICINE | BINDING | Spastic Paraplegia, Hereditary - genetics | Lennox Gastaut Syndrome - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Infant | Electroencephalography | Amino Acid Sequence - genetics | Spasms, Infantile - genetics | Aminoacylation - genetics | Lennox Gastaut Syndrome - genetics | Charcot-Marie-Tooth Disease - genetics | Alanine-tRNA Ligase - genetics | Microcephaly - pathology | Female | Protein Biosynthesis - genetics | Spasms, Infantile - complications | Spastic Paraplegia, Hereditary - pathology | Siblings | Microcephaly - diagnostic imaging | Spasms, Infantile - diagnostic imaging | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Whole Exome Sequencing | Spasms, Infantile - pathology | Lennox Gastaut Syndrome - pathology | Spastic Paraplegia, Hereditary - complications | Lennox Gastaut Syndrome - complications | Medical research | Career development | Nervous system diseases | Neurosciences | Ligases | Encephalopathy | Epilepsy | Medicine, Experimental | Amino acids | Protein biosynthesis | Transfer RNA | Aminoacylation | tRNA | Spasticity | Microcephaly | Ribonucleic acid--RNA | Neurological diseases | Microencephaly | Alanine-tRNA ligase | Charcot-Marie-Tooth disease | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1260 - 1264
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 709 - 719
Journal Article
Journal Article