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Academic Journal

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

  • Authors : Niño MY; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Subjects: Clinical Enzyme Tests/Clinical Enzyme Tests/Clinical Enzyme Tests/*methods ; Dried Blood Spot Testing/Dried Blood Spot Testing/Dried Blood Spot Testing/*methods ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 434-446. Date of Electronic Publication: 2020 Nov 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Physician-guided, hybrid genetic testing exerts promising effects on health-related behavior without compromising quality of life.

  • Authors : Schricker S; Department of General Internal Medicine and Nephrology, Robert-Bosch-Hospital, Auerbachstraße 110, 70376, Stuttgart, Germany.; Monje DC

Subjects: Health Behavior* ; Life Style* ; Quality of Life*

  • Source: Scientific reports [Sci Rep] 2021 Apr 19; Vol. 11 (1), pp. 8494. Date of Electronic Publication: 2021 Apr 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

  • Authors : Bergsma AJ; Department of Clinical Genetics, Erasmus MC Medical Center, Rotterdam, Netherlands. .; Department of Pediatrics, Erasmus MC Medical Center, Rotterdam, Netherlands. .

Subjects: Nonsense Mediated mRNA Decay* ; RNA Splicing*; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 422-433. Date of Electronic Publication: 2020 Nov 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Quality of life drives patients' preferences for secondary findings from genomic sequencing.

Subjects: Genetic Testing* ; Incidental Findings* ; Quality of Life*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Sep; Vol. 28 (9), pp. 1178-1186. Date of Electronic Publication: 2020 May 18.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

What do cancer patients' relatives think about addressing cancer family history and performing genetic testing in palliative care?

  • Authors : Cléophat JE; CHU de Québec-Laval University Research Center, Oncology Division, Quebec City, QC, Canada.; Faculty of Pharmacy, Laval University, Quebec City, QC, Canada.

Subjects: Attitude* ; Genetic Testing* ; Medical History Taking*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Feb; Vol. 28 (2), pp. 213-221. Date of Electronic Publication: 2019 Sep 16.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Evidence for penetrance in patients without a family history of disease: a systematic review.

  • Authors : Turner H; University of Exeter Medical School, 4.07 RILD, Royal Devon & Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.; Jackson L

Subjects: Penetrance*; Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 May; Vol. 28 (5), pp. 539-550. Date of Electronic Publication: 2020 Jan 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history.

Subjects: Genetic Testing* ; Medical History Taking*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Jul; Vol. 26 (7), pp. 972-983. Date of Electronic Publication: 2018 Mar 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

  • Authors : Cascella R; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.; Department of Chemical Pharmaceutical and Biomolecular Technologies, Catholic University 'Our Lady of Good Counsel' Laprakë, Rruga Dritan Hoxha, Tirane, Albania.

Subjects: Genetic Counseling* ; Genetic Testing* ; Medical History Taking*

  • Source: Eye (London, England) [Eye (Lond)] 2018 Feb; Vol. 32 (2), pp. 446-450. Date of Electronic Publication: 2017 Sep 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited

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Periodical

Rugby team converts to give gene tests a try.

Subjects: Exercise/Exercise/Exercise/*physiology ; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data ; Sports/Sports/Sports/*physiology

  • Source: Nature [Nature] 2005 Mar 17; Vol. 434 (7031), pp. 260.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium:

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Academic Journal

Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.

  • Authors : Tempest V; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.; Iredale R

Subjects: Pedigree*; Genetic Counseling/Genetic Counseling/Genetic Counseling/*methods ; Medical History Taking/Medical History Taking/Medical History Taking/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2005 Sep; Vol. 13 (9), pp. 1063-70.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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  • 1-10 of  11 results for ""GENETIC testing""