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Age of diagnosis of ataxia-telangiectasia as reported in literature.

Figshare2022-03-15 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Age_of_diagnosis_of_ataxia-telangiectasia_as_reported_in_literature_/19363921 数据链接链接失效反馈

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Age of diagnosis of ataxia-telangiectasia as reported in literature.

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2022-03-15

罕见病临床流行病学

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Prevalence and Frequency of Amyotrophic Lateral Sclerosis with C9orf72 and SOD1 Genetic Variants

ALS流行病学

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Introduction: ALS or Amyotrophic lateral sclerosis, is a rare neurological disorder characterized by the progressive deterioration of motor neurons. Assessment of the size/geographic distribution of t

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癫痫遗传学

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Descrizione: In 2012, we published the clinical case of a child with epilepsy and NREM-parasomnia of unknown cause. The boy, now aged 16 years old. In the suspicion of a genetic cause, the patient und

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Homo sapiens Raw sequence reads. Homo sapiens

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In the present study, we report a novel missense homozygous GJC2 c.G760A mutation in a case of HLD2.

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Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function

RNA代谢异常

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We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing Overall design: Identification and biochemical characterization of mutant CLP1 i

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Age of diagnosis of ataxia-telangiectasia as reported in literature.

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