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

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter
  • 1-10 ل  150,422 نتائج ل ""exome""

فلترة النتائج

إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

  • Authors : Melo M; Medical Genetics Unit, Hospital Dona Estefânia, Unidade Local de Saúde de Sao José, 1169-045 Lisbon, Portugal.; Ribeiro M

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods; Humans ; Portugal

  • Source: International journal of molecular sciences [Int J Mol Sci] 2025 Apr 09; Vol. 26 (8). Date of Electronic Publication: 2025 Apr 09.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

  • Authors : de Araújo WC; Institute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, RN, Brazil.; Department of Biochemistry, Biosciences Center, Federal University of Rio Grande do Norte, Natal, RN, Brazil.

Subjects: Nephritis, Hereditary*/Nephritis, Hereditary*/Nephritis, Hereditary*/genetics ; Collagen Type IV*/Collagen Type IV*/Collagen Type IV*/genetics ; Exome Sequencing*

  • Source: BMC genomics [BMC Genomics] 2025 Apr 02; Vol. 26 (1), pp. 331. Date of Electronic Publication: 2025 Apr 02.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

  • Authors : Bouzid A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia. .; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates. .

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Genetic Predisposition to Disease*; Humans

  • Source: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 367. Date of Electronic Publication: 2025 Jan 02.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Exome-wide association analysis identifies novel risk loci for alcohol-associated hepatitis.

Subjects: Humans; Male; Female

  • Source: Hepatology. 81(4)

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.

  • Authors : Szakállas N; Department of Biological Physics, Faculty of Science, Eötvös Loránd University, 1053 Budapest, Hungary.; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/pathology ; Single-Cell Analysis*/Single-Cell Analysis*/Single-Cell Analysis*/methods

  • Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jan 16; Vol. 26 (2). Date of Electronic Publication: 2025 Jan 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.

  • Authors : Moon Y; Bioinformatics Analysis Team, Research Core Center, Research Institute, National Cancer Center, Goyang 10408, Gyeonggi-do, Republic of Korea.; Hong CH

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Sensitivity and Specificity*; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 10; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 10.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.

  • Authors : Büyükgöl F; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.; Gürdamar B

Subjects: Multiple Sclerosis*/Multiple Sclerosis*/Multiple Sclerosis*/genetics ; Genetic Predisposition to Disease* ; Exome Sequencing*

  • Source: Scientific reports [Sci Rep] 2025 Apr 05; Vol. 15 (1), pp. 11682. Date of Electronic Publication: 2025 Apr 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

  • Authors : Taniguchi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/standards ; Congenital Abnormalities*/Congenital Abnormalities*/Congenital Abnormalities*/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2025 Mar; Vol. 13 (3), pp. e70092.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.

Subjects: GATA; pulmonary valve stenosis; right ventricle hypoplasia

  • Source: International Journal of Molecular Sciences. 26(5)

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

  • Authors : Al Khudari R; Department of Pediatrics, Children's University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria. .; Baqla S

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/genetics ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/diagnosis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 May 07; Vol. 20 (1), pp. 220. Date of Electronic Publication: 2025 May 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  150,422 نتائج ل ""exome""