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Academic Journal

Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.

Subjects: GENE families; MOSAICISM; GERM cells

  • Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1451-1453. 3p. 1 Diagram.

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Academic Journal

p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.

Subjects: GENE families; NEMALINE myopathy; NEUROMUSCULAR diseases

  • Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5359-5363. 5p. 2 Color Photographs, 1 Diagram.

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Academic Journal

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.

Subjects: GENETIC mutation; GENE families; ACHILLES tendon

  • Source: International Journal of Neuroscience. Oct2020, Vol. 130 Issue 10, p972-975. 4p.

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Academic Journal

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects.

Subjects: INTELLECTUAL disabilities; GENE families; DISABILITIES

  • Source: Neurological Sciences. Aug2019, Vol. 40 Issue 8, p1701-1704. 4p. 1 Color Photograph, 1 Graph.

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Academic Journal

P450 gene family mediates allelochemical detoxification and tolerance to alkaloids in cactophilic Drosophila.

Subjects: GENE families; DROSOPHILA; DROSOPHILIDAE

  • Source: Entomologia Experimentalis et Applicata. Nov2022, Vol. 170 Issue 11, p948-956. 9p.

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Academic Journal

Paired plant immune CHS3-CSA1 receptor alleles form distinct hetero-oligomeric complexes.

Subjects: ALLELES; GENE families

  • Source: Science. 2/16/2024, Vol. 383 Issue 6684, p719-719. 1p. 1 Diagram.

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Academic Journal

Sex-biased gene expression across mammalian organ development and evolution.

Subjects: GENE expression; MORPHOGENESIS; GENE families

  • Source: Science. 11/3/2023, Vol. 382 Issue 6670, p533-533. 1p. 1 Diagram.

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Academic Journal

Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.

Subjects: FAMILIAL spastic paraplegia; SCIENTIFIC knowledge; GENETIC variationSPAIN

  • Source: International Journal of Neuroscience. Aug2022, Vol. 132 Issue 8, p767-777. 11p.

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Academic Journal

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.

Subjects: ETIOLOGY of diseases; RECESSIVE genes; EPILEPSY

  • Source: Neurological Sciences. Dec2020, Vol. 41 Issue 12, p3729-3739. 11p. 2 Color Photographs, 4 Charts, 1 Graph.

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Academic Journal

Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

Subjects: EPILEPSY; ONTOGENY; CENTRAL nervous system

  • Source: Acta Neurologica Scandinavica. Sep2019, Vol. 140 Issue 3, p169-176. 8p.

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  • 1-10 of  604 results for ""Gene families""