Grochowsky相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Letter: Catatonia Treatment in Down Syndrome Regressive Disorder with Repeated Vineland Assessment: A Case Report

来信：唐氏综合征退行性疾病合并紧张症的治疗及重复文兰评估：病例报告

期刊:Journal of Child and Adolescent Psychopharmacology

影响因子:2.2

doi:10.1177/10445463261438764

Harris, Niki M; Marler, Sarah; Grochowsky, Angela; Graham, T Brent; Smith, Joshua R

发表日期：2026

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Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing

通过生化和分子遗传学检测，确诊为晚发型庞贝病，诊断依据为不明原因的进行性呼吸功能不全和虚弱。

期刊:Neurohospitalist

影响因子:0.7

doi:10.1177/19418744251348055

Furuta, Yutaka; Agrawal, Neena S; Grochowsky, Angela R; Tinker, Rory J; Mobley, Bret C; Jones, Karra A; Cassini, Thomas A

发表日期：2025

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The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report

种族和沟通障碍对创伤性致命代谢紧急处理的影响：病例报告

doi:10.3390/reports8040201

Furuta, Yutaka; Tinker, Rory J; Grochowsky, Angela R; Phillips, John A 3rd

发表日期：2025

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New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication

患有Joubert综合征的儿童新发1型糖尿病：一种罕见的内分泌并发症

doi:10.3390/reports8020057

Furuta, Yutaka; Nelson, Erica T; Tinker, Rory J; Grochowsky, Angela R

发表日期：2025

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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

GTF3C5（RNA 聚合酶 III 介导的转录调节剂）的双等位基因变异可导致多系统发育障碍

期刊:Human Genetics

影响因子:3.8

doi:10.1007/s00439-024-02656-3

Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, Paige Ernste, Lauren Lulis, Addie Nesbitt, Ahmad Abou Tayoun, Christopher Gray, Meghan C Towne, Kelly Radtke, Elizabeth A Normand, Li

发表日期：2024

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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

脆性X综合征中三核苷酸重复序列扩增之外：FMR1基因中的罕见编码和非编码变异及相关表型

影响因子:2.8

doi:10.3390/genes12111669

Tekendo-Ngongang, Cedrik; Grochowsky, Angela; Solomon, Benjamin D; Yano, Sho T

发表日期：2021

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Clinical characteristics of individual organ system disease in non-motile ciliopathies

非运动性纤毛病中各器官系统疾病的临床特征

doi:10.3233/TRD-190033

Grochowsky, Angela; Gunay-Aygun, Meral

发表日期：2019

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Mycobacterium marinum: an increasingly common opportunistic infection in patients on infliximab

海分枝杆菌：英夫利昔单抗治疗患者中日益常见的机会性感染

期刊:American Journal of Gastroenterology

影响因子:7.6

doi:10.1038/ajg.2012.118

Ferreira, Jason; Grochowsky, Jared; Krakower, Douglas; Zuromskis, Peter; Baden, Rachel; Cheifetz, Adam S

发表日期：2012

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