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Page 1
Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.
Am J Med Genet A. 2023 Aug;191(8):2209-2214. doi: 10.1002/ajmg.a.63244. Epub 2023 May 15.
Am J Med Genet A. 2023.
PMID: 37190896
Review.
Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.
Akcan MB, Albuz B, Ozdemir O, Silan F.
Akcan MB, et al.
Int J Rheum Dis. 2023 May;26(5):988-991. doi: 10.1111/1756-185X.14517. Epub 2022 Dec 8.
Int J Rheum Dis. 2023.
PMID: 36480443
Free PMC article.
No abstract available.
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A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.
Kaya D, Ceylan Köse C, Akcan MB, Silan F.
Kaya D, et al. Among authors: akcan mb.
Am J Med Genet A. 2024 Apr 24:e63636. doi: 10.1002/ajmg.a.63636. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38655717
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Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Akcan MB, Silan F.
Akcan MB, et al.
J Pediatr Gastroenterol Nutr. 2024 Apr 29. doi: 10.1002/jpn3.12223. Online ahead of print.
J Pediatr Gastroenterol Nutr. 2024.
PMID: 38682389
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