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In vitro fertilization and preimplantation genetic testing methods in infertility treatment of a woman with karyotype 46,XX,ins(13;4)(q34;p14p15.3),inv(4)(p14q12). Case report

• Authors : Zhanna I. Glinkina; Varvara S. Kuzmicheva; Nataliya P. Makarova

Subjects: Infertility; In vitro fertilisation; assisted reproductive technologies

• Source: Гинекология, Vol 23, Iss 5, Pp 441-444 (2021)

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Essential information on genetic testing methods that each clinician needs to know/understand

• Authors : Kristiina Tammimies; L. Nobili; V. Bizzarri

Subjects: Whole genome sequencing; Sanger sequencing; medicine.diagnostic_test

• Source: European Psychiatry. 64:S49-S50

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Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

• Authors : Wicharn Choktanasiri; Objoon Trachoo; Chonthicha Satirapod

Subjects: Oncology; Male; Embryology

• Source: PLoS ONEPLoS ONE, Vol 14, Iss 11, p e0225457 (2019)

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Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods

• Authors : Martin A. Crook; Angela Macfarlane; Gareth J Hollands

Subjects: Adult; Male; Risk

• Source: BMC Medical Genetics, Vol 13, Iss 1, p 87 (2012)BMC Medical Genetics

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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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Importância do Teste Genético na Miocardiopatia Dilatada: Aplicações e Desafios na Prática Clínica

• Authors : Arsonval Lamounier Junior; Luiz Eduardo Fonteles Ritt; Renato Max

Subjects: Adult; Cardiomyopathy, Dilated; Male

• Source: Arquivos Brasileiros de Cardiologia v.113 n.2 2019Arquivos Brasileiros de CardiologiaSociedade Brasileira de Cardiologia (SBC)instacron:SBCArquivos Brasileiros de Cardiologia,

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Pharmacogenetics and the treatment of epilepsy: what do we know?

• Authors : Nada Božina; Tamara Božina; Davor Sporiš

Subjects: medicine.medical_specialty; 030226 pharmacology & pharmacy; 03 medical and health sciences

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Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion

• Authors : Carmen Adamuz; Nabeel Sheikh; Michael Papadakis

Subjects: Adult; Genetic Markers; Male

• Source: Sheikh, N, Papadakis, M, Wilson, M, Malhotra, A, Adamuz, C, Homfray, T, Monserrat, L, Behr, E R & Sharma, S 2018, ' Diagnostic Yield of Genetic

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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

• Authors : Rikke Christensen; Henning Andersen; Jens Michael Hertz

Subjects: 0301 basic medicine; congenital, hereditary, and neonatal diseases and abnormalities; Massively parallel sequencing

• Source: Væth, S, Christensen, R, Dunø, M, Lildballe, D L, Thorsen, K, Vissing, J, Svenstrup, K, Hertz, J M, Andersen, H & Jensen, U B 2018, ' Genetic analysis of

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Moving towards personalised therapy in head and neck squamous cell carcinoma through analysis of next generation sequencing data

• Authors : Alfio Ferlito; Alessandra Rinaldo; Juan P. Rodrigo ...

Subjects: 0301 basic medicine; Cancer Research; Disease

• Source: European Journal of Cancer, 55, pp. 147-57European Journal of Cancer, 55, 147-157. PergamonGiefing, M, Wierzbicka, M, Szyfter, K, Brenner, J C, Braakhuis, B J, Brakenhoff, R H, Bradford, C

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