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Lipids in Health and Disease, ISSN 1476-511X, 2010, Volume 9, Issue 1, pp. 93 - 93
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 753 - 761
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital... 
BUTYRYLCHOLINESTERASE | RESPIRATORY RHYTHM | NEUROTRANSMISSION | GENETICS & HEREDITY | MUTATIONS | NEUROMUSCULAR-JUNCTION | RECEPTORS | EXPRESSION | KNOCKOUT MOUSE | ACETYLTRANSFERASE | DEFICIENCY | Myasthenia Gravis - complications | Presynaptic Terminals - pathology | Genes, Recessive - genetics | Neuromuscular Junction - metabolism | Apnea - metabolism | Humans | Muscle Weakness - complications | Child, Preschool | Infant | Male | Muscle Weakness - genetics | Mutation, Missense - genetics | Synaptic Transmission | Myasthenia Gravis - metabolism | Butyrylcholinesterase - metabolism | DNA Mutational Analysis | HEK293 Cells | Muscle Weakness - pathology | Female | Neuromuscular Junction - enzymology | Child | Infant, Newborn | Neuromuscular Junction - pathology | Myasthenia Gravis - pathology | Apnea - complications | Muscle Hypotonia - genetics | Cholinergic Neurons - metabolism | Arthrogryposis - complications | Symporters - deficiency | Arthrogryposis - genetics | Mutation - genetics | Symporters - metabolism | Homozygote | Exome - genetics | Apnea - pathology | Symporters - genetics | Adolescent | Presynaptic Terminals - metabolism | Apnea - genetics | Heterozygote | Myasthenia Gravis - genetics | Cholinergic Neurons - pathology | Neurotransmitters | Mutation | Cognition & reasoning | Metabolism | Cells | Index Medicus | Life Sciences | Human health and pathology | Report
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Journal Article
Angeiologie, ISSN 0003-3049, 05/2011, Volume 63, Issue 2, pp. 35 - 45
Journal Article
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