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Academic Journal

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

  • Authors : Wu R; Department of Children's Neuro-endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, Guangdong, China.; Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou Guangdong, 510120, China.

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/epidemiology

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 19; Vol. 19 (1), pp. 205. Date of Electronic Publication: 2024 May 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review.

  • Authors : Zhang R; Department of Pathology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Zhejiang, 310009, China.; Ding M

Subjects: Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/genetics ; Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/pathology ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/genetics

  • Source: Diagnostic pathology [Diagn Pathol] 2024 May 10; Vol. 19 (1), pp. 66. Date of Electronic Publication: 2024 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101251558 Publication Model: Electronic Cited Medium: Internet ISSN: 1746-1596

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Academic Journal

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.

  • Authors : Ma H; The School of Public Health, Guilin Medical University, 1 Zhiyuan Road, Lingui District, 541199, Guilin, PR China.; Zhu L

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

  • Source: BMC genomics [BMC Genomics] 2024 Apr 22; Vol. 25 (1), pp. 391. Date of Electronic Publication: 2024 Apr 22.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

SLCO1B1 Exome Sequencing and Statin Treatment Response in 64,000 UK Biobank Patients.

  • Authors : Türkmen D; Epidemiology & Public Health Group, Department of Clinical & Biomedical Science, Faculty of Health & Life Sciences, University of Exeter, Exeter EX4 4QD, UK.; Bowden J

Subjects: Liver-Specific Organic Anion Transporter 1*/Liver-Specific Organic Anion Transporter 1*/Liver-Specific Organic Anion Transporter 1*/genetics ; Hydroxymethylglutaryl-CoA Reductase Inhibitors*/Hydroxymethylglutaryl-CoA Reductase Inhibitors*/Hydroxymethylglutaryl-CoA Reductase Inhibitors*/therapeutic use ; Hydroxymethylglutaryl-CoA Reductase Inhibitors*/Hydroxymethylglutaryl-CoA Reductase Inhibitors*/Hydroxymethylglutaryl-CoA Reductase Inhibitors*/adverse effects

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 17; Vol. 25 (8). Date of Electronic Publication: 2024 Apr 17.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.

  • Authors : Lee JY; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.; Moon J

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Abortion, Habitual*/Abortion, Habitual*/Abortion, Habitual*/genetics ; Genetic Predisposition to Disease*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 May 17; Vol. 25 (10). Date of Electronic Publication: 2024 May 17.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.

  • Authors : Wang Q; Qilu Hospital of Shandong University Dezhou Hospital, Dezhou, Shandong, China.; Zhang Y

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/pathology ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/diagnosis

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2420.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

  • Authors : Marchant RG; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 May; Vol. 11 (5), pp. 1250-1266. Date of Electronic Publication: 2024 Mar 27.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

  • Authors : Khan H; Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Centre for Addiction and Mental Health, 250 College St, Toronto, ON, M5T 1R8, Canada.; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/genetics ; Exome Sequencing* ; Pedigree*

  • Source: Scientific reports [Sci Rep] 2024 Apr 22; Vol. 14 (1), pp. 9230. Date of Electronic Publication: 2024 Apr 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

  • Authors : Zhang J; Department of Gynecology and Obstetrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing 102208, P.R. China.; Yao Y

Subjects: Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/genetics ; Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/diagnosis ; Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/Keratoderma, Palmoplantar*/pathology

  • Source: Molecular medicine reports [Mol Med Rep] 2024 Jul; Vol. 30 (1). Date of Electronic Publication: 2024 May 02.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

  • Authors : Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dardas Z

Subjects: DNA Copy Number Variations* ; Exome Sequencing* ; Software*

  • Source: Nucleic acids research [Nucleic Acids Res] 2024 Feb 28; Vol. 52 (4), pp. e18.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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  • 1-10 of  28,073 results for ""Exome sequencing""