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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

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

  • Authors : Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Mehawej C

Subjects: Phenotype* ; Protein Isoforms*/Protein Isoforms*/Protein Isoforms*/genetics ; Proto-Oncogene Proteins c-abl*/Proto-Oncogene Proteins c-abl*/Proto-Oncogene Proteins c-abl*/genetics

  • Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 782-785. Date of Electronic Publication: 2024 Aug 18.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

  • Authors : Laitman Y; The Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Oncogenetics Service, Assuta Medical Centers, Tel Aviv, Israel.

Subjects: Genetic Predisposition to Disease* ; Heterozygote* ; Phenotype*

  • Source: Breast cancer research and treatment [Breast Cancer Res Treat] 2024 Dec; Vol. 208 (3), pp. 589-595. Date of Electronic Publication: 2024 Aug 05.Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.

  • Authors : Li X; Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, 1617 Riyue Avenue, Qingyang District, Chengdu, 611731, China.; Lu B

Subjects: Mutation* ; Phenotype*; Humans

  • Source: Immunologic research [Immunol Res] 2024 Dec; Vol. 72 (6), pp. 1268-1276. Date of Electronic Publication: 2024 Aug 13.Publisher: Humana Press Country of Publication: United States NLM ID: 8611087 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

  • Authors : Abe T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.; Morisaki K

Subjects: Noonan Syndrome*/Noonan Syndrome*/Noonan Syndrome*/genetics ; Noonan Syndrome*/Noonan Syndrome*/Noonan Syndrome*/metabolism ; Noonan Syndrome*/Noonan Syndrome*/Noonan Syndrome*/pathology

  • Source: JCI insight [JCI Insight] 2024 Nov 22; Vol. 9 (22). Date of Electronic Publication: 2024 Nov 22.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium:

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Academic Journal

Early nuclear phenotypes and reactive transformation in human iPSC-derived astrocytes from ALS patients with SOD1 mutations.

  • Authors : Soubannier V; Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.; The Neuro's Early Drug Discovery Unit, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.

Subjects: Astrocytes*/Astrocytes*/Astrocytes*/metabolism ; Astrocytes*/Astrocytes*/Astrocytes*/pathology ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics

  • Source: Glia [Glia] 2024 Nov; Vol. 72 (11), pp. 2079-2094. Date of Electronic Publication: 2024 Aug 02.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8806785 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Myeloproliferative Neoplasm-like Mutations of Calreticulin Induce Phenotypes Associated with Calreticulin Dysfunction in C. elegans .

  • Authors : Guijarro-Hernández A; Department of Biochemistry and Genetics, School of Sciences, University of Navarra, 31008 Pamplona, Spain.; Hurtado C

Subjects: Calreticulin*/Calreticulin*/Calreticulin*/genetics ; Calreticulin*/Calreticulin*/Calreticulin*/metabolism ; Caenorhabditis elegans*/Caenorhabditis elegans*/Caenorhabditis elegans*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 29; Vol. 25 (21). Date of Electronic Publication: 2024 Oct 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis.

  • Authors : Yamaguchi J; Department of Neurosurgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa- ku, Nagoya, 466-8550, Japan.; Ohka F

Subjects: Astrocytoma*/Astrocytoma*/Astrocytoma*/genetics ; Astrocytoma*/Astrocytoma*/Astrocytoma*/pathology ; Brain Neoplasms*/Brain Neoplasms*/Brain Neoplasms*/genetics

  • Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Oct 26; Vol. 12 (1), pp. 169. Date of Electronic Publication: 2024 Oct 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Academic Journal

Molecular dynamics simulations involving different β-propeller mutations reported in Swiss and French patients correlate with their disease phenotypes.

  • Authors : Chandrasekaran FP; Gene Therapy Laboratory, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, 632 014, India.; Nelson EJR

Subjects: Molecular Dynamics Simulation* ; Mutation* ; Phenotype*

  • Source: Scientific reports [Sci Rep] 2024 Oct 15; Vol. 14 (1), pp. 24133. Date of Electronic Publication: 2024 Oct 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Atypical Exon 2/3 Mutants G48C, Q43K, and E37K Present Oncogenic Phenotypes Distinct from Characterized NRAS Variants.

  • Authors : Fran MAG; The Graduate School, Thomas Aquinas Research Complex, University of Santo Tomas, España, Manila 1008, Philippines.; Leaño DMG

Subjects: Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics ; Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/metabolism ; GTP Phosphohydrolases*/GTP Phosphohydrolases*/GTP Phosphohydrolases*/genetics

  • Source: Cells [Cells] 2024 Oct 12; Vol. 13 (20). Date of Electronic Publication: 2024 Oct 12.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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  • 1-10 of  27,838 results for ""Phenotypes""