Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  34,400 results for ""Exome Sequencing""

Your Filters

Filter by : Subject
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

  • Authors : Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Building W8 Room 107, P.O. Box: 27272, Sharjah, United Arab Emirates. .; Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates. .

Subjects: Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Hearing Loss*/Hearing Loss*/Hearing Loss*/epidemiology ; Connexin 26*/Connexin 26*/Connexin 26*/genetics

  • Source: Human genomics [Hum Genomics] 2024 Jun 07; Vol. 18 (1), pp. 59. Date of Electronic Publication: 2024 Jun 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364

Record details

Read More Add to Saved list
×
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: Internet ISSN: 1582-4934

Record details

Read More Add to Saved list
×
Academic Journal

Integrated whole-exome and bulk transcriptome sequencing delineates the dynamic evolution from preneoplasia to invasive lung adenocarcinoma featured with ground-glass nodules.

  • Authors : Zhou D; Department of Thoracic Surgery, Xinqiao Hospital, Third Military Medical University (Army Medical University), Chongqing, China.; Li YQ

Subjects: Exome Sequencing* ; Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/genetics ; Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/pathology

  • Source: Cancer medicine [Cancer Med] 2024 Jun; Vol. 13 (11), pp. e7383.Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Improving access to exome sequencing in a medically underserved population through the Texome Project.

Subjects: Exome Sequencing* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Vulnerable Populations*

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101102. Date of Electronic Publication: 2024 Feb 29.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.

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

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101115. Date of Electronic Publication: 2024 Mar 01.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

  • Authors : Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Walczak-Sztulpa J

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Exome Sequencing*Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 May 25; Vol. 25 (11). Date of Electronic Publication: 2024 May 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

Record details

Read More Add to Saved list
×
Academic Journal

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

  • Authors : Zhang R; Department of Neonatology, Tianjin Children's Hospital/Tianjin University Children's Hospital, Beichen District, Tianjin, China.; Cui X

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Intensive Care Units, Neonatal*; Humans

  • Source: BMC pediatrics [BMC Pediatr] 2024 May 22; Vol. 24 (1), pp. 351. Date of Electronic Publication: 2024 May 22.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431

Record details

Read More Add to Saved list
×
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

Record details

Read Online Read More Add to Saved list
×
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

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing.

  • Authors : Kohansal E; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.; Naderi N

Subjects: Long QT Syndrome*/Long QT Syndrome*/Long QT Syndrome*/genetics ; ERG1 Potassium Channel*/ERG1 Potassium Channel*/ERG1 Potassium Channel*/genetics ; Exome Sequencing* Long Qt Syndrome 2

  • Source: BMC medical genomics [BMC Med Genomics] 2024 May 07; Vol. 17 (1), pp. 126. Date of Electronic Publication: 2024 May 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

Record details

Read More Add to Saved list
×
  • 1-10 of  34,400 results for ""Exome Sequencing""