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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

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Subjects: Formins*/Formins*/Formins*/genetics ; Homozygote* ; Microcephaly*/Microcephaly*/Microcephaly*/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70031.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Editorial & Opinion

Reproductive disorders in homozygote and heterozygote patients with familial Mediterranean fever patients and controls.

  • Authors : Sotskiy P; Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sotskaya O

Subjects: Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/genetics ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/diagnosis ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/complications

  • Source: Clinical and experimental rheumatology [Clin Exp Rheumatol] 2024 Oct; Vol. 42 (10), pp. 2102. Date of Electronic Publication: 2024 Sep 19.Publisher: Clinical And Experimental Rheumatology S.A.S Country of Publication: Italy NLM ID: 8308521 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Unmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene.

  • Authors : Nygaard RH; Department of Clinical Biochemistry, Aarhus University Hospital, 8200 Aarhus, Denmark.; Lauritzen ES

Subjects: Vitamin D*/Vitamin D*/Vitamin D*/blood ; Vitamin D Deficiency*/Vitamin D Deficiency*/Vitamin D Deficiency*/genetics ; Vitamin D Deficiency*/Vitamin D Deficiency*/Vitamin D Deficiency*/blood

  • Source: European journal of endocrinology [Eur J Endocrinol] 2024 Jun 05; Vol. 190 (6), pp. K53-K56.Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

[Analysis of a Chinese pedigree with female infertility due to WEE2 gene c.495del homozygous frameshifting variant induced fertilization disorder].

  • Authors : Yang J; Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu 730050, China. .; Wang Z

Subjects: Pedigree* ; Homozygote* ; Infertility, Female*/Infertility, Female*/Infertility, Female*/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 10; Vol. 41 (12), pp. 1478-1482.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

Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis HFE C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study.

  • Authors : Mottelson M; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Subjects: Ferritins*/Ferritins*/Ferritins*/blood ; Hemochromatosis*/Hemochromatosis*/Hemochromatosis*/genetics ; Hemochromatosis*/Hemochromatosis*/Hemochromatosis*/blood

  • Source: BMJ (Clinical research ed.) [BMJ] 2024 Dec 09; Vol. 387, pp. e079147. Date of Electronic Publication: 2024 Dec 09.Publisher: British Medical Association Country of Publication: England NLM ID: 8900488 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Examination of homozygosity runs and selection signatures in native goat breeds of Henan, China.

  • Authors : Peng W; College of Life Science and Agronomy, Zhoukou Normal University, Zhoukou, China. .; Zhang Y

Subjects: Goats*/Goats*/Goats*/genetics ; Homozygote* ; Selection, Genetic*

  • Source: BMC genomics [BMC Genomics] 2024 Dec 07; Vol. 25 (1), pp. 1184. Date of Electronic Publication: 2024 Dec 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Academic Journal

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

  • Authors : Cortés-González V; Departamento de Genética, Asociación Para Evitar la Ceguera en México, Vicente García Torres No. 46 Barrio San Lucas, Coyoacán, Mexico City, C.P. 04030, Mexico.; Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.

Subjects: Frizzled Receptors*/Frizzled Receptors*/Frizzled Receptors*/genetics ; Coloboma*/Coloboma*/Coloboma*/genetics ; Homozygote*

  • Source: Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1509-1521. Date of Electronic Publication: 2024 Nov 06.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous FAN1 c.2260C>T variant.

  • Authors : Guzel Dirim M; Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Dirim AB

Subjects: Multifunctional Enzymes*/Multifunctional Enzymes*/Multifunctional Enzymes*/genetics ; Nephritis, Interstitial*/Nephritis, Interstitial*/Nephritis, Interstitial*/genetics ; Nephritis, Interstitial*/Nephritis, Interstitial*/Nephritis, Interstitial*/diagnosis

  • Source: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 Dec; Vol. 29 (12), pp. 968-972. Date of Electronic Publication: 2024 Sep 18.Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Effects of germplasm exchange strategies on genetic gain, homozygosity, and genetic diversity in dairy stud populations: A simulation study.

  • Authors : Lozada-Soto EA; Department of Animal Science, North Carolina State University, Raleigh, NC 27607. Electronic address: .; Maltecca C

Subjects: Genetic Variation* ; Homozygote* ; Inbreeding*

  • Source: Journal of dairy science [J Dairy Sci] 2024 Dec; Vol. 107 (12), pp. 11149-11163. Date of Electronic Publication: 2024 Aug 30.Publisher: American Dairy Science Association Country of Publication: United States NLM ID: 2985126R Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  147,123 results for ""Homozygote""