Zoekresultaten - "monogenism"

Mouse models for V103I and I251L gain of function variants of the human MC4R display decreased adiposity but are not protected against a hypercaloric diet door Daniela Rojo, Clara McCarthy, Jesica Raingo, Marcelo Rubinstein

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Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia door Konstantinov Vladimir O, Lipovetsky Boris M, Stenderup Anette, Nilsen Gitte G, Nissen Peter H, Golubkov Valery I, Mandelshtam Michail Y, Damgaard Dorte, Zakharova Faina M, Denisenko Alexander D, Vasilyev Vadim B, Faergeman Ole

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs door Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung

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Síndromes autoinflamatórias hereditárias na faixa etária pediátrica Pediatric hereditary autoinflammatory syndromes door Adriana Almeida Jesus, João Bosco Oliveira, Maria Odete Esteves Hilário, Maria Teresa R. A. Terreri, Erika Fujihira, Mariana Watase, Magda Carneiro-Sampaio, Clovis Artur Almeida Silva

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Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort door Kübra Öztürk, Taner Coşkuner, Esra Baglan, Hafize Emine Sönmez, Gülçin Otar Yener, Figen Çakmak, Fatma Gül Demirkan, Ayşe Tanatar, Serife Gül Karadag, Semanur Ozdel, Ferhat Demir, Mustafa Çakan, Nuray Aktay Ayaz, Betül Sözeri

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Cystic Fibrosis Polymorphic Variants in a Russian Population door Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O

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Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome door Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin

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Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion door M.V. Ezhov, E.Yu. Zakharova, A.A. Avramenko, A.S. Alieva, I.N. Zakharova, I.V. Leont'eva, S.I. Malyavskaya, I.M. Osmanov, D.I. Sadykova, M.L. Stolina, T.V. Strokova

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Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion door M.V. Ezhov, E.Yu. Zakharova, A.A. Avramenko, A.S. Alieva, I.N. Zakharova, I.V. Leont'eva, S.I. Malyavskaya, I.M. Osmanov, D.I. Sadykova, M.L. Stolina, T.V. Strokova

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The epidemiology of sickle cell disease in children recruited in infancy in Kilifi, Kenya: a prospective cohort study door Sophie Uyoga, PhD, Alex W Macharia, MSc, George Mochamah, MSc, Carolyne M Ndila, PhD, Gideon Nyutu, BSc, Johnstone Makale, BSc, Metrine Tendwa, BSc, Emily Nyatichi, BSc, John Ojal, PhD, Mark Otiende, MSc, Mohammed Shebe, DipMed, Kennedy O Awuondo, BSc, Neema Mturi, MMed, Norbert Peshu, MMed, Benjamin Tsofa, MMed, Kathryn Maitland, ProfFMedSci, J Anthony G Scott, ProfFMedSci, Thomas N Williams, ProfFMedSci

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Selected Abstracts of the 18th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 19-22, 2022 door -

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