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Education Full Text (H.W. Wilson)

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(Epi)mutation Rates and the Evolution of Composite Trait Architectures.

• Authors : Polizzi, Bastien¹ (AUTHOR); Calvez, Vincent² (AUTHOR); Charlat, Sylvain^1,3 (AUTHOR)

Subjects: *Biological fitness; Genetic mutation; Heredity

• Source: American Naturalist. Sep2024, Vol. 204 Issue 3, pE42-E56. 15p.

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Education Full Text (H.W. Wilson)

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Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran.

• Authors : Pouyan Mehr, Donya; Faraji, Niloofar; Rezaei, Sajjad

Subjects: GENETIC mutation; CHILD development; DNA demethylationIRAN

• Source: Journal of Autism & Developmental Disorders. Feb2024, Vol. 54 Issue 2, p607-614. 8p.

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Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.

• Authors : Değerliyurt, Aydan (AUTHOR); Gülleroğlu, Nadide Başak (AUTHOR); Kibar Gül, Ayşe Esin (AUTHOR)

Subjects: GENETIC mutation; PHENOTYPES; CEREBELLAR ataxia

• Source: International Journal of Neuroscience. 2024, Vol. 134 Issue 2, p148-152. 5p.

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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.

• Authors : Locci, Sara (AUTHOR); Cardani, Rosanna (AUTHOR); Brunori, Paola (AUTHOR)

Subjects: GENETIC mutation; CHLORIDE channels; MYOTONIA atrophica

• Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5365-5368. 4p. 1 Color Photograph.

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Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort.

• Authors : Angeli, Simon I. (AUTHOR); Chiossone K, Juan A. (AUTHOR); Goncalves, Stefania (AUTHOR)

Subjects: GENETIC mutation; NUCLEOTIDES; GENOTYPESFLORIDA

• Source: Acta Oto-Laryngologica. Jul2023, Vol. 143 Issue 7, p551-557. 7p.

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Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.

• Authors : Xing, Fu (AUTHOR); Du, Juan (AUTHOR)

Subjects: PROTEINS; GENETIC mutation; FAMILIAL spastic paraplegia

• Source: Neurological Sciences. Aug2022, Vol. 43 Issue 8, p4989-4996. 8p. 2 Color Photographs, 2 Graphs.

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Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.

• Authors : Chow, Julie C.; Hormozdiari, Fereydoun

Subjects: EVALUATION of medical care; GENETIC mutation; CHILD psychopathology

• Source: Journal of Autism & Developmental Disorders. Mar2023, Vol. 53 Issue 3, p963-976. 14p. 1 Diagram, 1 Chart, 3 Graphs.

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Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).

• Authors : Shamoon, Rawand^1,2,3,4,5 (AUTHOR); Yassin, Ahmed^6,7 (AUTHOR); Charkaneh, Amir^5,8 (AUTHOR)

Subjects: *GENETIC mutation; *MOTHERS; *GENESKURDISTAN

• Source: Hemoglobin. May2023, Vol. 47 Issue 3, p118-121. 4p.

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