Arama Sonuçları - "monogenism"

21-Year-Old Pregnant Woman with MODY-5 Diabetes Yazar: Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail

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Genetic obesity: an update with emerging therapeutic approaches Yazar: Young Bae Sohn

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In celebration of a century with insulin - Update of insulin gene mutations in diabetes Yazar: Julie Støy, Elisa De Franco, Honggang Ye, Soo-Young Park, Graeme I. Bell, Andrew T. Hattersley

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Adult-onset systemic autoinflammatory disorders: a clinical approach Yazar: T. Borges, A. Barbosa, S. Silva

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Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis Yazar: Samuel Gagne, Vidya Sivaraman, Vidya Sivaraman, Shoghik Akoghlanian, Shoghik Akoghlanian

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Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children Yazar: Jinwoon Joung, Heeyeon Cho

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Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells Yazar: Miriam Cnop, Sanna Toivonen, Mariana Igoillo-Esteve, Paraskevi Salpea

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Novel therapeutics in rare genetic obesities: A narrative review Yazar: Beatrice Dubern, Nathan Faccioli, Christine Poitou, Karine Clément

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Challenges Involved in Incorporating Personalised Treatment Plan as Routine Care of Patients with Diabetes Yazar: Unnikrishnan R, Radha V, Mohan V

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Genetic Programming of Hypertension Yazar: Sun-Young Ahn, Sun-Young Ahn, Charu Gupta, Charu Gupta

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Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives Yazar: Qing Li, Yan Mao, Shaoying Li, Hongzi Du, Wenzhi He, Jianchun He, Lingyin Kong, Jun Zhang, Bo Liang, Jianqiao Liu

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias Yazar: Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele

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Hematopoietic stem cell transplantation for CYBB heterozygous mutation resulting in very early onset inflammatory bowel disease in children: a case report Yazar: Zhiling Li, Huan Chen, Xiaoqin Feng, Yongsheng Ruan, Min Yang

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An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations Yazar: Anjali Patwardhan, Charles H. Spencer

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Efficacy and tolerability of a specialized dietary therapeutic product in long-chain and very long-chain fatty acid metabolism disorders in children Yazar: N.A. Semenova, E.A. Shestopalova, S.I. Kutsev

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Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population Yazar: Jennifer D. Varner, Jennifer D. Varner, Megan Chryst-Stangl, Megan Chryst-Stangl, Christopher Imokhuede Esezobor, Adaobi Solarin, Guanghong Wu, Guanghong Wu, Brandon Lane, Brandon Lane, Gentzon Hall, Gentzon Hall, Asiri Abeyagunawardena, Ayo Matory, Tracy E. Hunley, Jen Jar Lin, David Howell, Rasheed Gbadegesin, Rasheed Gbadegesin

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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies Yazar: Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

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Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis Yazar: Joshua C. Combs, M.D, Maura Dougherty, M.S, Meghan U. Yamasaki, D.O, Alan H. DeCherney, M.D, Kate M. Devine, M.D, Micah J. Hill, D.O, Erin Rothwell, Ph.D, Jeanne E. O'Brien, M.D, Richard E. Nelson, Ph.D

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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8 Yazar: Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild

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Efficacy and tolerability of a specialized dietary therapeutic product in long-chain and very long-chain fatty acid metabolism disorders in children Yazar: N.A. Semenova, E.A. Shestopalova, S.I. Kutsev

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