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Academic Journal

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

  • Authors : McDevitt T; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland. .; Durkie M

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/standards ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Ovarian Neoplasms*/Ovarian Neoplasms*/Ovarian Neoplasms*/genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 May; Vol. 32 (5), pp. 479-488. Date of Electronic Publication: 2024 Mar 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach.

  • Authors : Abdel-Razeq H; Department of Internal Medicine, King Hussein Cancer Center, 202 Queen Rania Al Abdullah Street, P.O. Box: 1269, Amman, 11941, Jordan. .; School of Medicine, The University of Jordan, Amman, Jordan. .

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/diagnosis ; Genetic Counseling*

  • Source: Scientific reports [Sci Rep] 2024 Jun 04; Vol. 14 (1), pp. 12820. Date of Electronic Publication: 2024 Jun 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Collaborative efforts to improve genetic testing in the neonatal intensive care unit.

  • Authors : Schuler BA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. .; Mosera M

Subjects: Intensive Care Units, Neonatal* ; Genetic Testing*; Infant, Newborn

  • Source: Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2023 Dec; Vol. 43 (12), pp. 1500-1505. Date of Electronic Publication: 2023 Nov 01.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 8501884 Publication Model: Print-Electronic

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Academic Journal

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

  • Authors : Fleming A; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, SW3 6NP, UK.; Galey M

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1074-1085. Date of Electronic Publication: 2024 Apr 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.

  • Authors : Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Lohmann K

Subjects: Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/genetics ; Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/diagnosis ; Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1014-1021. Date of Electronic Publication: 2024 Jun 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.

  • Authors : D'Souza EE; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.; Findley TO

Subjects: Intensive Care Units, Neonatal* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis

  • Source: Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2024 Aug; Vol. 44 (8), pp. 1196-1202. Date of Electronic Publication: 2024 Mar 18.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 8501884 Publication Model: Print-Electronic

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Academic Journal

Close-to-lesion transbronchial biopsy: a novel technique to improve suitability of specimens for genetic testing in patients with peripheral pulmonary lesions.

  • Authors : Nishii Y; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.; Sakaguchi T

Subjects: Genetic Testing* ; Bronchoscopy*; Humans

  • Source: Scientific reports [Sci Rep] 2023 Sep 07; Vol. 13 (1), pp. 14724. Date of Electronic Publication: 2023 Sep 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Assessing the general public's view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages.

  • Authors : Ruehl M; Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA. .; Ohio Health Cancer Genetic Counseling, Bing Cancer Center, Columbus, OH, 43214, USA. .

Subjects: Genetic Testing* ; Direct-To-Consumer Screening and Testing*; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 939-944. Date of Electronic Publication: 2023 Jun 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/ethics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/economics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/legislation & jurisprudence

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 May; Vol. 32 (5), pp. 489-497. Date of Electronic Publication: 2024 Mar 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.

Subjects: Insurance, Life*/Insurance, Life*/Insurance, Life*/legislation & jurisprudence ; Genetic Testing*/Genetic Testing*/Genetic Testing*/legislation & jurisprudence ; Genetic Testing*/Genetic Testing*/Genetic Testing*/economics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 827-836. Date of Electronic Publication: 2024 Apr 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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  • 1-10 of  4,005 results for ""GENETIC testing""