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Academic Journal

Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos.

  • Authors : Ariad D; Department of Biology, Johns Hopkins University, Baltimore, Maryland 21218, USA; .

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Aneuploidy*; Male

  • Source: Genome research [Genome Res] 2024 Feb 07; Vol. 34 (1), pp. 70-84. Date of Electronic Publication: 2024 Feb 07.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium:

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Academic Journal

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

  • Authors : Wu C; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.; Xiang H

Subjects: Genetic Testing* ; Intranuclear Inclusion Bodies*/Intranuclear Inclusion Bodies*/Intranuclear Inclusion Bodies*/genetics; 5' Untranslated Regions

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 May; Vol. 9 (5), pp. 633-643. Date of Electronic Publication: 2022 Mar 17.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].

  • Authors : Chen J; Department of Rehabilitation, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430016, China. .; Hu C

Subjects: Genetic Testing* ; Genomics*; Exoribonucleases Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Jan 10; Vol. 39 (1), pp. 48-51.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

A novel ferroptosis-related gene signature associated with cell cycle for prognosis prediction in patients with clear cell renal cell carcinoma.

  • Authors : Chen S; Department of Urology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Zhang E

Subjects: Carcinoma, Renal Cell/Carcinoma, Renal Cell/Carcinoma, Renal Cell/*genetics ; Cell Cycle/Cell Cycle/Cell Cycle/*genetics ; Ferroptosis/Ferroptosis/Ferroptosis/*genetics

  • Source: BMC cancer [BMC Cancer] 2022 Jan 03; Vol. 22 (1), pp. 1. Date of Electronic Publication: 2022 Jan 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

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Academic Journal

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

  • Authors : Xie L; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.; Qiu Y

Subjects: Genetic Testing* ; Mutation*; Deafness/Deafness/Deafness/*diagnosis

  • Source: Neural plasticity [Neural Plast] 2021 Jul 23; Vol. 2021, pp. 6151973. Date of Electronic Publication: 2021 Jul 23 (Print Publication: 2021).Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 100883417 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

  • Authors : Ma X; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People's Republic of China, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.; Li M

Subjects: Genetic Predisposition to Disease* ; Germ-Line Mutation*; Adrenal Gland Neoplasms/Adrenal Gland Neoplasms/Adrenal Gland Neoplasms/*genetics

  • Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Dec 11; Vol. 11, pp. 574662. Date of Electronic Publication: 2020 Dec 11 (Print Publication: 2020).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print

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Academic Journal

Intra-tumoral heterogeneity and immune responses predicts prognosis of gastric cancer.

  • Authors : Feng W; Department of Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai 200032, People’s Republic of China.; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, People’s Republic of China.

Subjects: Decision Support Techniques* ; Genetic Heterogeneity* ; Genetic Testing*

  • Source: Aging [Aging (Albany NY)] 2020 Nov 26; Vol. 12 (23), pp. 24333-24344. Date of Electronic Publication: 2020 Nov 26.Publisher: Impact Journals, LLC Country of Publication: United States NLM ID: 101508617 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Development of a genomic DNA reference material panel for thalassemia genetic testing.

  • Authors : Yin Z; BGI-Shenzhen, Shenzhen, China.; China National GeneBank, BGI-Shenzhen, Shenzhen, China.

Subjects: Genetic Markers* ; Genomics*/Genomics*/Genomics*/methods ; Genomics*/Genomics*/Genomics*/standards

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2020 Oct; Vol. 42 (5), pp. 510-517. Date of Electronic Publication: 2020 Apr 16.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

[Application of various genetic techniques for the diagnosis of Prader-Willi syndrome].

  • Authors : Huang W; Institute of Medical Genetics, Zhuhai Municipal Maternal and Child Health Care Hospital, Zhuhai, Guangdong 519001, China. .; Li S

Subjects: Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/diagnosis ; Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/genetics; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Aug 10; Vol. 37 (8), pp. 875-878.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials.

  • Authors : Chen S; Health Care Dept, Guangdong Women and Children's Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China.; Liang Z

Subjects: Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data; Asian People/Asian People/Asian People/genetics

  • Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2019 Jun; Vol. 121, pp. 99-108. Date of Electronic Publication: 2019 Mar 08.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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