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Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 3, pp. 186 - 194
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 05/2018, Volume 82, Issue 3, pp. 165 - 170
IntroductionPrimary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory... 
microcephaly | cataract | CDK5RAP2 | EXOME | VARIANTS | GENETICS | GENETICS & HEREDITY | Cataract | Genetic disorders | Nucleotide sequencing | Analysis | DNA sequencing | Cataracts | Phenotypes | Microencephaly | Etiology | Microcephaly | Cyclin-dependent kinase 5 | Hearing loss
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1649 - 1659
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 786 - 792
Background Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
GAIN-OF-FUNCTION | EPISODIC ATAXIA TYPE-1 | GENETICS & HEREDITY | SENSORINEURAL DEAFNESS | NALCN CAUSE | CENTRAL-NERVOUS-SYSTEM | MUTATIONS | POTASSIUM CHANNEL GENE | EXPRESSION | K+ CHANNELS | FAST INACTIVATION
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, p. 786
BackgroundVoltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 01/2018, Volume 22, Issue 1, pp. 46 - 55
Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for... 
ISCA2 | Neurodevelopmental regression | Hypotonia | White matter | Mitochondrial disease | METACHROMATIC LEUKODYSTROPHY | BRAIN-STEM | MATURATION | SULFUR-PROTEIN BIOGENESIS | CLINICAL NEUROLOGY | NFU1 | SAPOSIN-B DEFICIENCY | BOLA3 | DISEASE | MUTATION | PEDIATRICS | SPINAL-CORD INVOLVEMENT
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/1998, Volume 52, Issue 3, p. 186
Background There are numerous nuclear genes that cause mitochondrial disorders and clinically and genetically heterogeneous disorders whose aetiology often... 
Journal Article
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