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Awareness of genetic counseling and genetic testing for hereditary gynecologic cancers among Korean healthcare providers: A survey

• Authors : Miseon Kim; Myong Cheol Lim; Eun Ji Nam

Subjects: Female; Genetic Counseling / methods; Genetic Predisposition to Disease

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Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives

• Authors : Salikhanov, Islam; Heinimann, Karl; Chappuis, Pierre

Subjects: info:eu-repo/classification/ddc/616; Costs and cost analysis; Gastrointestinal diseases

• Source: ISSN: 0022-2593 ; Journal of medical genetics, vol. 59, no. 9 (2022) p. 924-930.

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Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

• Authors : Klau, Julia; Abou Jamra, Rami; Radtke, Maximilian

Subjects: Adolescent [MeSH]; Neurodevelopmental disorders; Humans [MeSH]

• Source: http://lobid.org/resources/99370671030206441#!, 30(1):117-125.

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Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

• Authors : Lipska-Ziętkiewicz, Beata S.; Ozaltin, Fatih; Hölttä, Tuula

Subjects: Consensus Development Conferences as Topic [MeSH]; Europe [MeSH]; Article

• Source: http://lobid.org/resources/99370671030206441#!, 28(10):1368-1378.

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Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations

• Authors : Tatjana Jatsenko; Charlotte Maggen; Giuseppe Floris ...

Subjects: Adult; Oncology; medicine.medical_specialty

• Source: Clinical chemistry, 66(11), 1414-1423. American Association for Clinical Chemistry Inc.

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Bilateral Meningioma: A Case Report and Review of the Literature

• Authors : Anja Bukovac; Hana Panić; Tomislava Mrgan

Subjects: QH301-705.5; Catalysis; Inorganic Chemistry

• Source: International Journal of Molecular Sciences, Vol 23, Iss 1187, p 1187 (2022)

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

• Authors : Nadine Hanna; Tiffany Busa; Mélodie Aubart ...

Subjects: Male; Proband; class 4 and 5 variants

• Source: Genetics in MedicineGenetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩

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De novo variants in neurodevelopmental disorders with epilepsy

• Authors : Heyne, H. O.; Singh, T.; Stamberger, H. ...

Subjects: Exome/genetics; Male; 0301 basic medicine

• Source: bioRxiv. Cold Spring Harbor Labs Journals (2017).Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P,

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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

• Authors : Opstal, D. van; Maarle, M.C. van; Lichtenbelt, K. ...

Subjects: 0301 basic medicine; CVS MOSAICISM; FETAL DNA

• Source: Genetics in Medicine, 20, 480-485Genetics in MedicineGenetics in Medicine, 20(5), 480-485. Nature Publishing GroupGenetics in medicine, 20(5), 480-485. Lippincott Williams and

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The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy

• Authors : Efstathios Papatheodorou; Gherardo Finocchiaro; Mary N. Sheppard

Subjects: Brugada Syndrome/diagnosis; Adult; Male

• Source: Papadakis, M, Papatheodorou, E, Mellor, G, Raju, H, Bastiaenen, R, Wijeyeratne, Y, Wasim, S, Ensam, B, Finocchiaro, G, Gray, B, Malhotra, A, D'Silva, A, Edwards, N, Cole, D, Attard, V, Batchvarov, V

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