Zoekresultaten - "monogenism"

Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells door Megumu K. Saito

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Autoimmune Polyendocrine Syndromes in the Pediatric Age door Roberto Paparella, Michela Menghi, Ginevra Micangeli, Lucia Leonardi, Giovanni Profeta, Francesca Tarani, Carla Petrella, Giampiero Ferraguti, Marco Fiore, Luigi Tarani

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Orthodontics and Genetics door Alexandre R. Vieira

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Uncommon Diseases: a Look from Pediatrics door Jan Oneil González Ramos, Lisbel Aguilar Lezcano

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Pregnancy Complicated by Maternal MODY 3 and Paternal MODY 2 Diabetes and Subsequent Rapidly Falling Insulin Requirement door Anastasia Mikuscheva, Adel Mekhail, Benjamin J. Wheeler

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Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents door Toni Hospach, Fabian Glowatzki, Friederike Blankenburg, Dennis Conzelmann, Christian Stirnkorb, Chris Sandra Müllerschön, Peter von den Driesch, Lisa Maria Köhler, Meino Rohlfs, Christoph Klein, Fabian Hauck

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Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients door Giulio Frontino, Giulio Frontino, Tara Raouf, Tara Raouf, Daniele Canarutto, Daniele Canarutto, Daniele Canarutto, Eva Tirelli, Eva Tirelli, Raffaella Di Tonno, Raffaella Di Tonno, Andrea Rigamonti, Andrea Rigamonti, Maria Lucia Cascavilla, Cristina Baldoli, Roberta Scotti, Letizia Leocani, Letizia Leocani, Su-Chun Huang, Franco Meschi, Franco Meschi, Graziano Barera, Vania Broccoli, Greta Rossi, Silvia Torchio, Raniero Chimienti, Riccardo Bonfanti, Riccardo Bonfanti, Lorenzo Piemonti, Lorenzo Piemonti

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Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center door Thi Minh Phuong Bui, Van Khanh Tran, Thi Thanh Hai Nguyen, Thi Phuong Le, Thi Mai Nguyen, Hai Anh Tran, Vu Dung Luu, Manh Ha Nguyen, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran

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

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Diagnosis and Management of Inherited Palmoplantar Keratodermas door Bjorn R. Thomas, Edel A. O'Toole

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Targeting Inflammation in Emerging Therapies for Genetic Retinal Disease door Ishaq A. Viringipurampeer, Abu E. Bashar, Cheryl Y. Gregory-Evans, Orson L. Moritz, Kevin Gregory-Evans

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NEW STEP IN THE LIFE QUALITY IMPROVEMENT OF PATIENTS WITH MUCOVISCIDOSIS: TOBRAMYCIN FOR ANAPNOTHERAPY door V. V. Chernikov, S. A. Krasovskiy

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Childhood diabetes in India door Sanjay Kalra, Mudita Dhingra

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Familial Mediterranean Fever: Current Approaches to Diagnosis and Treatment door Mikhail M. Kostik, Olga V. Zhogova, Natalia V. Lagunova, Sergey V. Ivanovskiy, Oksana L. Kolobova, Larisa N. Melnikova

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CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE door Alina-Costina Luca, Elena Braha

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The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases door B. Meertens, B. Meertens, L. Hoste, L. Hoste, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, F. Haerynck, F. Haerynck

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A <i>De novo</i> Mutation in the <i>COL1A1</i> Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature door Yurong Lu, Yijia Tian, Jinxiu Liu, Yifan Wang, Xietong Wang

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Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity door Rebecca Hetrick, Melissa Oliver

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Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders door Palamaro Loredana, Giardino Giuliana, Santamaria Francesca, Ramenghi Ugo, Dianzani Umberto, Pignata Claudio

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The Pharmacogenomics of Anti-Hypertensive Therapy door Sandosh Padmanabhan, Laura Paul, Anna F. Dominczak

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