Zoekresultaten - "monogenism"

Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder? door Stéphanie De Rechter, Stéphanie De Rechter, Luc Breysem, Djalila Mekahli, Djalila Mekahli

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Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches door Martin Oswald Savage, Helen Louise Storr

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TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys door Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga

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Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies door Adrian S. Woolf, Adrian S. Woolf, Filipa M. Lopes, Parisa Ranjzad, Neil A. Roberts

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Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2 door Pui Y. Lee

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Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report door Rinat K. Raupov, Rinat K. Raupov, Rinat K. Raupov, Evgeny N. Suspitsin, Evgeny N. Suspitsin, Artur I. Imelbaev, Mikhail M. Kostik

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Bacteriophage Therapy for Pan-Drug-Resistant in Two Persons With Cystic Fibrosis door Andrea Hahn MD, MS, Iman Sami MD, Hollis Chaney MD, Anastassios C. Koumbourlis MD, MPH, Coralee Del Valle Mojica MD, MPH, Claire Cochrane BA, Benjamin K. Chan PhD, Jonathan L. Koff MD

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Skin manifestations of inborn errors of NF-κB door Yitong Shen, Anne P. R. Boulton, Robert L. Yellon, Matthew C. Cook, Matthew C. Cook, Matthew C. Cook

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Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management door Maísa Malta, Rowim AlMutiri, Christine Saint Martin, Myriam Srour

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Bioethical aspects in type I neurofibromatosis door Codruta Diana Petchesi, Gabriela Ciavoi, Claudia Jurca, Romana Vulturar, Marius Bembea

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Periodic fever syndromes: beyond the single gene paradigm door Clara Westwell-Roper, Iwona Niemietz, Lori B. Tucker, Kelly L. Brown

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Systemic autoinflammatory disorders door Dae Chul Jeong

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NLRP12-associated systemic autoinflammatory diseases in children door Hui-fang Wang

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Familial Mediterranean Fever in Childhood door Rabia Miray Kisla Ekinci, Elif Kilic Konte, Nergis Akay, Umit Gul

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A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q door Fan Zhang, Liang Zhang

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Interleukin-1 as a Common Denominator from Autoinflammatory to Autoimmune Disorders: Premises, Perils, and Perspectives door Giuseppe Lopalco, Luca Cantarini, Antonio Vitale, Florenzo Iannone, Maria Grazia Anelli, Laura Andreozzi, Giovanni Lapadula, Mauro Galeazzi, Donato Rigante

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Skin manifestations in children with inborn errors of immunity in a tertiary care hospital in Iran door Zahra Salehi Shahrbabaki, Zahra Chavoshzadeh, Fahimeh Abdollahimajd, Samin sharafian, Mahnaz Jamee, Anastasia Bondarenko, Tolue Mahdavi

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Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases door Al-Hakim A, Mistry A, Savic S

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Evaluation of Transfusion-Related Infections in Patients with Beta Thalassemia Major in Southeast Turkey door Esra Pekpak Şahinoğlu, Miray Karakoyun

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Re-diagnosis of diabetes mellitus type 1 to maturity-onset diabetes of the young type 2 (MODY 2) in a 26-year-old male: a case report door Bartosz Siudek, Olgierd Dróżdż, Wiktoria Bińczyk, Karina Lissak, Bianka Nowińska, Patrycja Brzozowska, Anna Wiśniewska

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