Search Results - "Medical genetics"

Economic Evaluation of Multiple-Pharmacogenes Testing for the Prevention of Adverse Drug Reactions in People Living with HIV by Turongkaravee S, Praditsitthikorn N, Ngamprasertchai T, Jittikoon J, Mahasirimongkol S, Sukasem C, Udomsinprasert W, Wu O, Chaikledkaew U

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Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease by Goláň L, Goker-Alpan O, Holida M, Kantola I, Klopotowski M, Kuusisto J, Linhart A, Musial J, Nicholls K, Gonzalez-Rodriguez D, Sharma R, Vujkovac B, Chang P, Wijatyk A

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Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome by Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T

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Trimetazidine Alleviates Bleomycin-Induced Pulmonary Fibrosis by Targeting the Long Noncoding RNA CBR3-AS1-Mediated miRNA-29 and Resistin-Like Molecule alpha 1: Deciphering a Novel... by Alzahrani AR, Mohamed DI, Abo Nahas HH, Alaa El-Din, Altamimi AS, Youssef IH, Ibrahim IAA, Mohamed SM, Sabry YG, Falemban AH, Elhawary NA, Bamagous GA, Jaremko M, Saied EM

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Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis by Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, Giugliani R

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BREAST AND/OR OVARIAN CANCER AS PART OF FAMILY CANCER SYNDROME by L. N. Lyubchenko, N. I. Pospelova, A. A. Parokonnaya, A. A. Luzhnikova, E. M. Chevkina

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STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION by A. Savina, O. Vitovska

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A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia by Zhuang Y, Zhang R, Li M, Zou Y, Jiang S, Zhang Y, Liu S, Yu B

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A role of genetic studies in aggravated obstetric history: a clinical observation by Ju. E. Dobrokhotova

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Results of a preliminary analysis of the pattern of hereditary breast cancer in the women of a Kyrgyz population by K. B. Makieva, S. V. Golovachev, B. B. Sultangazieva, N. M. Bukuyev

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Defining RASopathy by Katherine A. Rauen

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Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report by Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Iliana González Santana

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Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene by Evgenia Melnik, Margarita Sharova, Vladimir Kenis, Anna Morgul, Viktoria Zabnenkova, Tatiana Markova

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A Biopsychosocial Overview of the Opioid Crisis: Considering Nutrition and Gastrointestinal Health by David A. Wiss

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Cytogenetic studies in primary amenorrhoea cases by Elham Ghadirkhomi, Akram Ghdirkhomi, Seyed Abdolhamid Angaji

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Genetic variants influencing obesity-related traits in Japanese population by Kazuhiro Nakayama, Yuta Inaba

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A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy by Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell

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PROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDREN by O. G. Novoselova, G. A. Karkashadze, N. V. Zhurkova, O. I. Maslova

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Multiple Bone Fractures in a Neonate with Osteogenesis Imperfecta: A Case Report by Rakesh Kumar, Prerna Chamoli

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Asthma May Not be a Potential Risk Factor for Severe COVID-19 Illness: A Scoping Review by Chukwudi S Ubah, Gregory D Kearney, Lok R Pokhrel

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