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Orphanet Journal of Rare Diseases|August 2, 2025
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristicsMehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, et al.
Tuberkuloz Ve Toraks|April 27, 2024
Asthma-chronic obstructive pulmonary disease overlap: Results from a national-multicenter studyGülfem Elif Çelik, Ömür Aydin, Elif Şen, et al.
Lancet (London, England)|October 5, 2024
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trialAnia C Muntau, Nicola Longo, Fatih Ezgu, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 7, 2012
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadismFatih Gürbüz, L Damla Kotan, Eda Mengen, et al.
The Journal of Clinical Endocrinology and Metabolism|July 18, 2014
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndromeA Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, et al.
Journal of Kidney Cancer and VHL|April 8, 2026
Does Margin Length Predict Recurrence After Partial Nephrectomy, or Is Presence Alone Sufficient?Ural Oğuz, Mehmet Giray Sönmez, Birgül Tok, et al.
Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.
International Archives of Allergy and Immunology|May 18, 2018
Long-Term Omalizumab Treatment: A Multicenter, Real-Life, 5-Year TrialArzu Yorgancıoğlu, Ferda Öner Erkekol, Dilşad Mungan, et al.
Gastroenterology|January 11, 2015
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionElena Bonora, Francesca Bianco, Lina Cordeddu, et al.
Multiple Sclerosis and Related Disorders|June 26, 2025
Safety and Efficacy of Cladribine in Patients Discontinuing Fingolimod Due to Elevated Transaminase Levels: The FinClad StudyMeryem Tuba Sönmez, Mehmet Fatih Yetkin, Duygu Arslan Mehdiyev, et al.
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