Mila Za Sve Foundation/Mila Za Sve Foundation[Grants and Funding] - Search Results

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Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Cuk M, Unal B, Bevanda A, Hayes CP, Walker M, Abraamyan F, Beluzic R, Gornik KC, Ozretic D, Prutki M, Nie Q, Reddi HV, Ghazani AA. Cuk M, et al. Genes (Basel). 2024 Jul 19;15(7):946. doi: 10.3390/genes15070946. Genes (Basel). 2024. PMID: 39062725 Free PMC article.

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Cuk M, Unal B, Jandric N, Hayes CP, Walker M, Abraamyan F, Gornik KC, Ghazani AA. Cuk M, et al. J Pers Med. 2024 Aug 25;14(9):901. doi: 10.3390/jpm14090901. J Pers Med. 2024. PMID: 39338155 Free PMC article.

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Ćuk M, Unal B, Lovrenčić L, Walker M, Hayes CP, Abraamyan F, Prutki M, Krakar G, Srkoč-Majčica L, Ghazani AA. Ćuk M, et al. Genes (Basel). 2024 Oct 6;15(10):1300. doi: 10.3390/genes15101300. Genes (Basel). 2024. PMID: 39457424 Free PMC article.

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