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Academic Journal

Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.

Authors : Wang, Xiaomeng; Ling, Zhengbao; Luo, Tengfei

Subjects: HYPERTENSION in pregnancy; PROTEINS; GENETIC mutation

Source: Journal of Autism & Developmental Disorders. Feb2024, Vol. 54 Issue 2, p749-764. 16p.

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Academic Journal

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Authors : Narasimhan, Udayakumar; Janakiraman, Abhinayaa; Puskur, Dedeepya

Subjects: BRAIN physiology; DIAGNOSIS of autism; GENETICS of autism

Source: Journal of Autism & Developmental Disorders. May2023, Vol. 53 Issue 5, p2138-2142. 5p.

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Academic Journal

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Authors : Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing

Subjects: HUMAN abnormality genetics; GENETICS of autism; PROTEINS

Source: Journal of Autism & Developmental Disorders. Nov2022, Vol. 52 Issue 11, p5033-5041. 9p. 4 Diagrams, 1 Chart.

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Academic Journal

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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Academic Journal

Identifying genetic loci and phenomic associations of substance use traits: A multi‐trait analysis of GWAS (MTAG) study.

Authors : Xu, Heng; Toikumo, Sylvanus; Crist, Richard C.

Subjects: PROTEINS; SUBSTANCE abuse; SINGLE nucleotide polymorphismsUNITED States; EUROPE; AFRICA

Source: Addiction. Oct2023, Vol. 118 Issue 10, p1942-1952. 11p. 1 Diagram, 2 Charts, 2 Graphs.

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Academic Journal

A Dietary Supplement Jinghuosu Ameliorates Reproductive Damage Induced by Tripterygium Glycosides.

Authors : Ma, Jing; Sun, Bo; Te, Li-ger

Subjects: CHINESE medicine; BIOLOGICAL models; PROTEINS

Source: Chinese Journal of Integrative Medicine; Apr2024, Vol. 30 Issue 4, p330-338, 9p

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Academic Journal

Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Authors : Mir, Atefeh; Song, Yongjun; Lee, Hane

Subjects: PROTEINS; ATAXIA; RESEARCH funding

Source: Laboratory Medicine; Mar2024, Vol. 55 Issue 2, p204-208, 5p

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Academic Journal

Role of Epiregulin in Lung Tumorigenesis and Therapeutic Resistance.

Authors : Sunaga, Noriaki; Miura, Yosuke; Masuda, Tomomi

Subjects: LUNG physiology; THERAPEUTIC use of antineoplastic agents; LUNG cancer

Source: Cancers; Feb2024, Vol. 16 Issue 4, p710, 16p

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Academic Journal

Identification of systemic biomarkers and potential drug targets for age-related macular degeneration.

Authors : Shizhen Lei; Mang Hu; Zhongtao Wei

Subjects: BIOMARKERS; PROTEINS; RETINAL degeneration

Source: Frontiers in Aging Neuroscience; 2024, p1-11, 11p

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Academic Journal

A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.

Authors : Lee, Chaeyeon (AUTHOR); Jang, Ja-Hyun (AUTHOR); Park, Kyung-Ah (AUTHOR)

Subjects: PROTEINS; DNA; GENETIC mutation

Source: Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4367-4371. 5p. 2 Color Photographs, 1 Graph.

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