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Academic Journal

Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.

  • Authors : Lülecioğlu AA; Department of Molecular Biology and Genetics, Faculty of Science, İhsan Doğramacı Bilkent University, Ankara, Turkey.; Yazıcı YY

Subjects: Exome Sequencing* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Jun; Vol. 28 (11), pp. e18485.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print Cited Medium:

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Academic Journal

Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

  • Authors : Chida-Nagai A; Department of Pediatrics Hokkaido University Hospital Sapporo Japan.; Department of Pediatric Cardiology and Adult Congenital Cardiology Tokyo Women's Medical University Tokyo Japan.

Subjects: Cytochrome P-450 Enzyme System* ; Intramolecular Oxidoreductases*/Intramolecular Oxidoreductases*/Intramolecular Oxidoreductases*/genetics ; Intramolecular Oxidoreductases*/Intramolecular Oxidoreductases*/Intramolecular Oxidoreductases*/metabolism

  • Source: Journal of the American Heart Association [J Am Heart Assoc] 2024 May 07; Vol. 13 (9), pp. e032872. Date of Electronic Publication: 2024 Apr 19.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited

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Academic Journal

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

  • Authors : Stevens CAT; Department of Primary Care and Public Health School of Public Health, Imperial College London London United Kingdom.; Vallejo-Vaz AJ

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/epidemiology

  • Source: Journal of the American Heart Association [J Am Heart Assoc] 2024 Jun 18; Vol. 13 (12), pp. e034434. Date of Electronic Publication: 2024 Jun 15.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited

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Academic Journal

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

  • Authors : Lee JY; Department of Laboratory Medicine, Inje University College of Medicine, Busan, South Korea.; Oh SH

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/genetics; Humans

  • Source: Annals of human genetics [Ann Hum Genet] 2024 Mar; Vol. 88 (2), pp. 101-112. Date of Electronic Publication: 2023 Oct 05.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Large-scale whole-exome sequencing association study identifies FOXH1 gene and sphingolipid metabolism pathway influencing major depressive disorder.

  • Authors : Zhou W; Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China.

Subjects: Genome-Wide Association Study* ; Exome Sequencing*; Depressive Disorder, Major/Depressive Disorder, Major/Depressive Disorder, Major/*genetics

  • Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2021 Nov; Vol. 27 (11), pp. 1425-1428.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print Cited Medium:

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Academic Journal

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

  • Authors : Chahal CAA; Mayo Clinic Graduate School of Biomedical SciencesMayo Clinic Rochester MN.; WellSpan Center for Inherited Cardiovascular Diseases WellSpan Health PA.

Subjects: Autopsy* ; Sudden Unexpected Death in Epilepsy* ; Exome Sequencing*

  • Source: Journal of the American Heart Association [J Am Heart Assoc] 2021 Dec 07; Vol. 10 (23), pp. e021170. Date of Electronic Publication: 2021 Nov 24.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited

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Academic Journal

Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.

  • Authors : Saat H; Department of Medical Genetics, University of Health Sciences, Dışkapı Yıldırım Beyazıt Research and Training Hospital, Ankara, Turkey.; Sahin I

Subjects: Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/diagnosis ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/genetics ; Exome Sequencing*

  • Source: Annals of human genetics [Ann Hum Genet] 2021 Sep; Vol. 85 (5), pp. 178-185. Date of Electronic Publication: 2021 May 08.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

  • Authors : Fang X; Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Zhang Y

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease* ; Exome Sequencing*

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2020 Oct; Vol. 24 (20), pp. 11703-11717. Date of Electronic Publication: 2020 Aug 31.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited

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Academic Journal

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

  • Authors : Ramchand J; Department of Medicine Austin Health The University of Melbourne Heidelberg Victoria Australia.; Department of Cardiology Austin Health Heidelberg Victoria Australia.

Subjects: Genetic Testing* ; Genetic Variation* ; Exome Sequencing*

  • Source: Journal of the American Heart Association [J Am Heart Assoc] 2020 Jan 21; Vol. 9 (2), pp. e013346. Date of Electronic Publication: 2020 Jan 14.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited

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Academic Journal

Whole-exome sequencing suggests multiallelic inheritance for childhood-onset Ménière's disease.

  • Authors : Skarp S; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.

Subjects: Alleles* ; Genetic Association Studies* ; Genetic Predisposition to Disease*

  • Source: Annals of human genetics [Ann Hum Genet] 2019 Nov; Vol. 83 (6), pp. 389-396. Date of Electronic Publication: 2019 May 20.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  138 results for ""Exome Sequencing""