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Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

• Authors : Turkdogan, Dilsad (AUTHOR); Turkyilmaz, Ayberk (AUTHOR); Sager, Gunes (AUTHOR)

Subjects: RECESSIVE genes; COMPARATIVE genomic hybridization; DNA copy number variations

• Source: International Journal of Neuroscience. Jul2023, Vol. 133 Issue 7, p683-700. 18p.

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Education Full Text (H.W. Wilson)

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Education Full Text (H.W. Wilson)

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Education Full Text (H.W. Wilson)

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Agricola

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A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.

• Authors : Azzarà, Alessia (AUTHOR); Cassano, Ilaria (AUTHOR); Lintas, Carla (AUTHOR)

Subjects: RECESSIVE genes; FACIAL paralysis; GENOME-wide association studies

• Source: European Journal of Neurology. Jan2024, Vol. 31 Issue 1, p1-7. 7p.

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Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

• Authors : Hemptinne, Coralie¹ (AUTHOR) ; Willermain, François^1,2 (AUTHOR); de Jong, Casper³ (AUTHOR)

Subjects: *RECESSIVE genes; *GENETIC variation; *ASPARTATE aminotransferase

• Source: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p318-320. 3p.

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A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

• Authors : Parisi, Mattia¹ (AUTHOR) ; Canosa, Antonio^2,3,4 (AUTHOR); Tessa, Alessandra⁵ (AUTHOR)

Subjects: *GENETIC variation; *RECESSIVE genes; *HEREDITY

• Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1455-1456. 2p.

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Education Full Text (H.W. Wilson)

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Increased susceptibility to acoustic trauma in a mouse model of non‐syndromic sensorineural deafness, DFNB91.

• Authors : Tan, Justin (AUTHOR); Kaiserman, Dion (AUTHOR); O'Leary, Stephen J. (AUTHOR)

Subjects: SENSORINEURAL hearing loss; RECESSIVE genes; PRESBYCUSIS

• Source: European Journal of Neuroscience. Mar2021, Vol. 53 Issue 5, p1638-1651. 14p. 1 Color Photograph, 2 Black and White Photographs, 6 Graphs.

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