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CMAJ: Canadian Medical Association Journal, ISSN 0820-3946, 09/2014, Volume 186, Issue 12, p. 934
Journal Article
CMAJ, ISSN 0820-3946, 2014, Volume 186, Issue 12, p. 934
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Pediatrics, ISSN 0031-4005, 07/2013, Volume 132, Issue 1, p. e257
  A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated propionylcarnitine on newborn screening, was subsequently identified as... 
Pediatrics | Newborn babies | Vitamin B | Vitamin deficiency | Medical screening | Metabolism
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2015, Volume 52, Issue 7, pp. 431 - 437
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2015, Volume 10, Issue 10, p. e0139343
textabstractBackground. Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS),... 
GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | BRAIN-DEVELOPMENT | PHENOTYPE | PSYCHOMOTOR RETARDATION | MONOCARBOXYLATE TRANSPORTER-8 | SLC16A2 | DEFICIENCY | THYROID-HORMONE TRANSPORTER | Humans | Middle Aged | Male | Immunoenzyme Techniques | Mental Retardation, X-Linked - genetics | Triiodothyronine - metabolism | Adult | Female | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Muscle Hypotonia - genetics | Mental Retardation, X-Linked - pathology | Muscular Atrophy - metabolism | Muscular Atrophy - pathology | RNA, Messenger - genetics | Cells, Cultured | Muscular Atrophy - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Muscle Hypotonia - pathology | Phenotype | Pedigree | Adolescent | Heterozygote | Muscle Hypotonia - metabolism | Fibroblasts - cytology | Monocarboxylic Acid Transporters - genetics | Mental Retardation, X-Linked - metabolism | Gene mutations | Research | Brain | Laboratories | Immunocytochemistry | Genes | Cognitive ability | Families & family life | Thyroid gland | Mental retardation | Protein turnover | Genotype & phenotype | Penicillin | Thyroxine | Fibroblasts | Triiodothyronine | Protein transport | Localization | Thyroid | Efflux | Internal medicine | Functional analysis | Metabolism | Patients | Mutants | Children & youth | Serum levels | Thyroid-stimulating hormone | Hospitals | Mutation | Transport | Position (location) | Transporter | Endocrinology
Journal Article
PLoS ONE, 10/2015, Volume 10, Issue 10
Background Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by... 
Journal Article
CANADIAN MEDICAL ASSOCIATION JOURNAL, ISSN 0820-3946, 09/2014, Volume 186, Issue 12, pp. 934 - 934
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 01/2018, Volume 177, Issue 1, pp. 101 - 109
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 06/2019
Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 837 - 841
Autosomal dominant Dandy‐Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is... 
arachnoid cyst | occipital cephalocele | Dandy‐Walker | ADDWOC | NID1 | NIDOGEN-1 | DEFECTS | EGF-LIKE MOTIF | GENETICS & HEREDITY | Dandy-Walker | DANDY-WALKER MALFORMATION | BINDING | Phenotype | Genetic aspects | Nucleotide sequencing | Genomics | Lubrication and lubricants | DNA sequencing | Encephalocele | Phenotypes | Cysts | Arachnoid | Phenotypic variations
Journal Article