يعرض 1 - 10 نتائج من 1,329 نتيجة بحث عن '"Whole-exome sequencing/WES"', وقت الاستعلام: 1.00s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals

    المؤلفون: Fuse, NobuoAff1, Aff2, IDs10384024011030_cor1, Kimura, Masae, Shimizu, Ai, Koshiba, Seizo, Hamanaka, Teruhiko, Nakamura, Makoto, Ishida, Nobuo, Sakai, Hiroshi, Ikeda, Yoko, Mori, Kazuhiko, Endo, AtsushiAff1, Aff8, Nagasaki, MasaoAff1, Aff9, Katsuoka, Fumiki, Yasuda, Jun, Matsubara, Yoichi, Nakazawa, Toru, Yamamoto, Masayuki

    المصدر: Japanese Journal of Ophthalmology: The Official International Journal of the Japanese Ophthalmological Society. :1-14

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  2. 2
    دورية أكاديمية
    JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation

    المؤلفون: Khojasteh, Mana, Soleimani, Parsa, Ghasemi, Aida, Taghizadeh, Peyman, Rohani, MohammadAff4, IDs10072024074196_cor5, Alavi, AfaghAff1, Aff2, IDs10072024074196_cor6

    المصدر: Neurological Sciences. 45(8):3829-3844

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  3. 3
    دورية أكاديمية
    Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71

    المؤلفون: Bazgir, AfsanehAff1, Aff2, Agha Gholizadeh, MehdiAff1, Aff2, Kahani, Seyyed MohammadAff1, Aff2, Tavasoli, Ali RezaAff4, Aff5, Garshasbi, MasoudAff1, Aff3, IDs1004802400753z_cor5

    المصدر: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 25(3):225-232

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  4. 4
    دورية أكاديمية
    A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11

    المؤلفون: Lu, Yin-QianAff1, Aff2, Chen, Jian-Min, Huang, Ya-Li, Zou, Zhang-YuAff1, Aff2, IDs12311023016163_cor4

    المصدر: The Cerebellum. 23(3):1221-1225

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  5. 5
    دورية أكاديمية
    Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

    المؤلفون: Moghimi, ParinazAff1, Aff2, Hashemi-Gorji, Farzad, Jamshidi, Sanaz, Tehrani Fateh, Sahand, Salehpour, Shadab, Sadeghi, Hossein, Norouzi Rostami, Fatemeh, Mirfakhraie, Reza, Miryounesi, MohammadAff1, Aff7, IDs10528024107875_cor9, Ghasemi, Mohammad-RezaAff1, Aff7, IDs10528024107875_cor10

    المصدر: Biochemical Genetics. :1-28

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  6. 6
    دورية أكاديمية
    Genetic change investigation in DOCK1 gene in an Iranian family with sign and symptoms of temporomandibular joint disorder (TMD)

    المؤلفون: Najafi, ShamsoulmoloukAff1, Aff2, Aff5, Hashemi-Gorji, Farzad, Roudgari, Hassan, Goudarzi, Mina, Jafarzadegan, Amir Mohammad, Sheykhbahaei, NafisehAff2, Aff4, IDs00784024058198_cor6

    المصدر: Clinical Oral Investigations. 28(8)

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  7. 7
    دورية أكاديمية
    Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis

    المؤلفون: Run Guo, Yingxue Zou, Yongsheng Guo, Weiwei Gao

    المصدر: Diagnostic Pathology, Vol 19, Iss 1, Pp 1-5 (2024)

    مصطلحات موضوعية: Cystic fibrosis, CFTR variants, Whole exome sequencing (WES), Compound heterozygous, Chinese population, Case report, Pathology, RB1-214

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1746-1596

    URL الوصول: https://doaj.org/article/8669ce2fb6a94df7a4d2e52e4186954a

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  8. 8
    دورية أكاديمية
    Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis

    المؤلفون: Guo, Run, Zou, YingxueAff1, IDs1300002401531z_cor2, Guo, Yongsheng, Gao, Weiwei

    المصدر: Diagnostic Pathology. 19(1)

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  9. 9
    دورية أكاديمية
    Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)

    المؤلفون: Ghodsinezhad, Vadieh, Ghoreishi, Abdoreza, Rohani, Mohammad, Dadfar, Mahdi, Mohammadzadeh, Akbar, Rostami, AliAff6, IDs0043802402111y_cor6, Rahimi, HamzehAff7, Aff8, IDs0043802402111y_cor7

    المصدر: Molecular Genetics and Genomics. 299(1)

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  10. 10
    دورية أكاديمية
    High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease

    المؤلفون: Ding, Hui-yang, Lei, Wen, Xiao, Shang-jie, Deng, Hua, Yuan, Li-ke, Xu, Lu, Zhou, Jia-liang, Huang, Rong, Fang, Yuan-long, Wang, Qing-yuan, Zhang, Ying, Zhang, LiangAff2, IDs0038302305620w_cor12, Zhu, Xiao-chunAff1, IDs0038302305620w_cor13

    المصدر: Pediatric Surgery International. 40(1)

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