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Web Resource
Neurology, ISSN 0028-3878, 06/2015, Volume 84, Issue 24, p. e207
Journal Article
Neurology, ISSN 0028-3878, 12/2015, Volume 85, Issue 24, pp. 2181 - 2181
Journal Article
JAMA Otolaryngology–Head & Neck Surgery, ISSN 2168-6181, 02/2016, Volume 142, Issue 2, p. 193
Journal Article
JAMA Otolaryngology Head & Neck Surgery, ISSN 2168-6181, 02/2016, Volume 142, Issue 2, p. 193
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 4, pp. e40 - e41
Journal Article
Neurology, ISSN 0028-3878, 06/2015, Volume 84, Issue 24, pp. e207 - e207
A 3-month-old boy presented with a giant congenital melanocytic nevus involving his back. He was developing normally with no neurologic symptoms. Brain MRI... 
CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Neurocutaneous Syndromes - diagnosis | Diagnosis, Differential | Nevus, Pigmented - pathology | Humans | Brain - pathology | Infant | Male | Back - pathology | Neurocutaneous Syndromes - pathology | Melanosis - pathology | Melanosis - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 10/2011, Volume 26, Issue 10, pp. 1319 - 1321
Journal Article
Pediatric neurology briefs, ISSN 1043-3155, 02/2016, Volume 30, Issue 2, pp. 14 - 14
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a... 
Asparagine-Linked Glycosylation Protein 1 | CDG | Carbohydrate-Deficient Transferrin
Journal Article
Pediatric neurology briefs, ISSN 1043-3155, 11/2015, Volume 29, Issue 11, pp. 82 - 82
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted... 
Next-Generation-Sequencing | Novel Genes | Neuromuscular Disorders
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 2009, Volume 84, Issue 5, pp. 394 - 394
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 03/2018, Volume 10, Issue 1, pp. 79 - 82
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated... 
Klinefelter syndrome | KCNJ11 | Neonatal diabetes | INSULIN | KIR6.2 MUTATIONS | CHANNEL | DISEASE | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | MELLITUS | ASSOCIATION | SUBUNIT | Infants (Newborn) | Care and treatment | Gene mutations | Klinefelter's syndrome | Genetic aspects | Diabetes | Research | Health aspects | T?p | Glucose | Mutation | Chromosomes | Potassium | Index Medicus | Case Report
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2846 - 2849
Exome sequencing is being used increasingly to evaluate patients with intellectual disability. YY1 is a ubiquitously distributed transcription factor belonging... 
YY1 | myasthenia gravis | learning disability | yin and Yang 1 | Gabriele‐de Vries | Gabriele-de Vries | YIN-YANG 1 | GENETICS & HEREDITY | EXPRESSION | MODULATION | Myasthenia gravis | DNA microarrays | Neuromuscular junctions | YY1 protein | Learning disabilities | Myasthenia | Diagnosis | Zinc finger proteins
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 49, Issue 6, pp. 486 - 488
Journal Article
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