Last Posted: Jul 02, 2018
- Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
EP Kirk et al, Genetics in Medicine, July 2, 2018 - Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population.
Jastaniah Wasil et al. Cancer epidemiology 2018 May 5588-95 - The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.
El-Metwally Ashraf et al. BioMed research international 2018 20187697210 - [Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system].
Gazzaneo Ilanna Fragoso Peixoto et al. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 34(1) 91-8 - Pharmacogenomic survey of Qatari populations using whole-genome and exome sequences.
Sivadas Ambily et al. The pharmacogenomics journal 2018 May - Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Al-Hassnan Zuhair N et al. Heart rhythm 2017 Aug 14(8) 1191-1199 - Prevalence, management, and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf.
Al-Rasadi Khalid et al. Journal of clinical lipidology 2018 Feb - A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao Cheng-Yu et al. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2018 Mar - A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt Suzanne C E H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May 19(5) 583-592 - Investigation of the Use of a Family Health History Application in Genetic Counseling.
Tipsword Meghan L et al. Journal of genetic counseling 2017 Dec
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