Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 4
2018 4
2019 2
2020 2
2021 3
2022 5
2023 4
2024 4
2025 15

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

41 results

Results by year

Filters applied: . Clear all
Page 1
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: bulut fd. Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. Am J Hum Genet. 2025. PMID: 40043708 Free PMC article.
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B, Schlieben LD, Brennenstuhl H, Arikan C, Bedoyan SM, Bulut FD, Crushell E, Dionisi-Vici C, Drab A, Fichtner A, Garcia AG, Fry D, Garbade SF, Hammann N, Hadzic N, Hegarty R, Jørgensen MH, Laaß M, Lainka E, Leghlam L, Lurz E, Mungan HNÖ, Pietrobattista A, Polo B, Socha P, Squires JE, Sun T, Vogel GF, Prokisch H, Kölker S, Hoffmann GF, Staufner C, Lenz D. Peters B, et al. Among authors: bulut fd. Liver Int. 2025 Jul;45(7):e70146. doi: 10.1111/liv.70146. Liver Int. 2025. PMID: 40433928 Free PMC article.
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Zubarioglu T, Kıykım E, Köse E, Eminoğlu FT, Teke Kısa P, Balcı MC, Özer I, İnci A, Çilesiz K, Canda E, Yazıcı H, Öztürk-Hişmi B, Bulut FD, Dorum S, Akgun A, Yalçın-Çakmaklı G, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Güneş D, Durmuş A, Gündüz A, Kasapkara ÇS, Göksoy E, Akar HT, Ersoy M, Erdöl Ş, Yıldız Y, Hanağası HA, Arslan N, Aktuğlu-Zeybek Ç. Zubarioglu T, et al. Among authors: bulut fd. Mol Genet Metab. 2024 Jun;142(2):108493. doi: 10.1016/j.ymgme.2024.108493. Epub 2024 May 13. Mol Genet Metab. 2024. PMID: 38772327
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: bulut fd. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
Evaluation of bone health in patients with mucopolysaccharidosis.
Kor D, Bulut FD, Kılavuz S, Şeker Yılmaz B, Köşeci B, Kara E, Kaya Ö, Başaran S, Seydaoğlu G, Önenli Mungan N. Kor D, et al. Among authors: bulut fd. J Bone Miner Metab. 2022 May;40(3):498-507. doi: 10.1007/s00774-021-01304-4. Epub 2022 Jan 23. J Bone Miner Metab. 2022. PMID: 35066680
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Özsaydi Aktaşoğlu E, Inci A, Öktem RM, Biberoğlu G, Okur İ, Ezgü FS, Cengiz Ergin FB, Akgün A, Arslan N, Aydin Hİ, Bozaci AE, Çoker M, Eminoğlu FT, Ersoy M, Göksoy E, Kadioğlu Yilmaz B, Kağnici M, Kiliç M, Önenli Mungan N, Öztürk Hişmi B, Soylu Üstkoyuncu P, Tokatli A, Aktuğlu Zeybek AÇ, Bilginer Gürbüz B, Dorum S, Güneş D, Kasapkara ÇS, Kilavuz S, Soyuçen E, Teke Kisa P, Ünal Uzun Ö, Bulut FD, Gökay S, Has Özhan S, Kor D, Küçükçongar Yavaş A, Özçay F, Yildiz Y, Yildiz H, Tümer L. Özsaydi Aktaşoğlu E, et al. Among authors: bulut fd. Turk J Med Sci. 2024 Nov 20;55(3):585-594. doi: 10.55730/1300-0144.6005. eCollection 2025. Turk J Med Sci. 2024. PMID: 40686712 Free PMC article.
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I. Balci MC, et al. Among authors: bulut fd. Orphanet J Rare Dis. 2025 Aug 1;20(1):394. doi: 10.1186/s13023-025-03702-7. Orphanet J Rare Dis. 2025. PMID: 40751258 Free PMC article.
41 results