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Academic Journal

[Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants].

  • Authors : Ruan Y; Department of Otolaryngology Head and Neck Surgery，Beijing Tongren Hospital，Capital Medical University，Beijing Institute of Otolaryngology，Key Laboratory of Otolaryngology Head and Neck Surgery（Capital Medical University.; Wen C

Subjects: Connexin 26* ; Heterozygote* ; Homozygote*

  • Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Dec; Vol. 38 (12), Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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Academic Journal

[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].

  • Authors : Zhang D; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. .; Xu F

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics ; Heterozygote* ; Thiolester Hydrolases*/Thiolester Hydrolases*/Thiolester Hydrolases*/genetics

  • 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] 2024 Dec 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

[Genetic analysis of a child with Congenital insensitivity to pain due to compound heterozygous variants of SCN9A gene].

  • Authors : Tan X; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. .; Yang Y

Subjects: NAV1.7 Voltage-Gated Sodium Channel*/NAV1.7 Voltage-Gated Sodium Channel*/NAV1.7 Voltage-Gated Sodium Channel*/genetics ; Heterozygote* ; Pain Insensitivity, Congenital*/Pain Insensitivity, Congenital*/Pain Insensitivity, Congenital*/genetics

  • 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] 2024 Nov 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

[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].

  • Authors : Hao N; Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetric and Gynecologic Diseases, Beijing 100730, China.; Yin KL

Subjects: Exome Sequencing* ; Genetic Carrier Screening*/Genetic Carrier Screening*/Genetic Carrier Screening*/methods ; Heterozygote*

  • Source: Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2024 Oct 25; Vol. 59 (10), pp. 764-770.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210370R Publication Model: Print Cited Medium:

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Academic Journal

[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].

  • Authors : Chen M; Department of Medical Genetics, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China. .; Huang S

Subjects: Heterozygote* ; Pentosyltransferases*/Pentosyltransferases*/Pentosyltransferases*/genetics ; Pedigree*

  • 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] 2024 Oct 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

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].

  • Authors : Wang Y; Otorhinolaryngology Hospital，the First Affiliated Hospital，Sun Yat-sen University，Guangzhou，510080，China；Institute of Otolaryngology，Sun Yat-sen University.; Liang Y

Subjects: Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Heterozygote* ; Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics

  • Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Aug; Vol. 38 (8), Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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Academic Journal

[A case of a syndrome characterized by short stature, and developmental delay caused by heterozygous variation in the FOXP4 gene].

  • Authors : Ding SY; Pediatric Hospital of the First Affiliated Hospital of Henan University of Chinese Medicine College of Pediatrics Henan University of Chinese Medicine, Zhengzhou 450000, China.; Zhang QW

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Forkhead Transcription Factors*/Forkhead Transcription Factors*/Forkhead Transcription Factors*/genetics ; Heterozygote*

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jun 02; Vol. 62 (6), pp. 571-573.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].

  • Authors : Cheng XL; Department of Clinical Laboratory Examination, The First Affiliated Hospital of Air Force Medical University, Xi'an 710032, Shaanxi Province, China.; Yang T

Subjects: Pedigree* ; Factor XII Deficiency*/Factor XII Deficiency*/Factor XII Deficiency*/genetics ; Factor XII*/Factor XII*/Factor XII*/genetics

  • Source: Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2024 Jun; Vol. 32 (3), pp. 862-867.Publisher: Zhongguo shi yan xue za zhi she Country of Publication: China NLM ID: 101084424 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].

  • Authors : Zhu L; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276000, China. .; Han Y

Subjects: Heterozygote* ; Exome Sequencing*; Humans

  • 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] 2024 May 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

[Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene].

  • Authors : Liu S; Third Ward of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Mao S

Subjects: Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/genetics ; Heterozygote* ; Myopathy, Central Core*/Myopathy, Central Core*/Myopathy, Central Core*/genetics

  • 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] 2024 May Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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  • 1-10 of  1,113 results for ""Heterozygote""