Alkaya DU - Search Results

1

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: alkaya du. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.

2

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Tüysüz B, Kasapçopur Ö, Alkaya DU, Şahin S, Sözeri B, Yeşil G. Tüysüz B, et al. Among authors: alkaya du. Gene. 2018 Feb 5;642:398-407. doi: 10.1016/j.gene.2017.11.052. Epub 2017 Nov 21. Gene. 2018. PMID: 29170090

3

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Tüysüz B, Alkaya DU, Toksoy G, Güneş N, Yıldırım T, Bayhan İA, Uyguner ZO. Tüysüz B, et al. Among authors: alkaya du. Gene. 2019 Jul 1;704:59-67. doi: 10.1016/j.gene.2019.04.026. Epub 2019 Apr 11. Gene. 2019. PMID: 30980944

4

Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Alkaya DU, Karaman B, Tüysüz B. Alkaya DU, et al. Mol Syndromol. 2020 Jun;11(2):97-103. doi: 10.1159/000506892. Epub 2020 Apr 2. Mol Syndromol. 2020. PMID: 32655341 Free PMC article.

5

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.

Tüysüz B, Geyik F, Yıldırım T, Alkaya DU, Sharifova S, Kafadar A. Tüysüz B, et al. Among authors: alkaya du. Eur J Med Genet. 2021 Jul;64(7):104248. doi: 10.1016/j.ejmg.2021.104248. Epub 2021 May 14. Eur J Med Genet. 2021. PMID: 34000439

6

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Caglayan AO, Tuysuz B, Gül E, Alkaya DU, Yalcinkaya C, Gleeson JG, Bilguvar K, Gunel M. Caglayan AO, et al. Among authors: alkaya du. J Hum Genet. 2022 Sep;67(9):553-556. doi: 10.1038/s10038-022-01032-1. Epub 2022 Mar 25. J Hum Genet. 2022. PMID: 35338243 Free PMC article.

7

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Güneş N, Alkaya DU, Demirbilek V, Yalçınkaya C, Tüysüz B. Güneş N, et al. Among authors: alkaya du. J Pediatr. 2023 Jan;252:93-100. doi: 10.1016/j.jpeds.2022.08.052. Epub 2022 Sep 5. J Pediatr. 2023. PMID: 36067876

8

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Tüysüz B, Usluer E, Uludağ Alkaya D, Ocak S, Saygılı S, Şeker A, Apak H. Tüysüz B, et al. Bone. 2023 Dec;177:116897. doi: 10.1016/j.bone.2023.116897. Epub 2023 Sep 11. Bone. 2023. PMID: 37704070

9

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M. Tüysüz B, et al. Among authors: alkaya du. Bone. 2023 Feb;167:116614. doi: 10.1016/j.bone.2022.116614. Epub 2022 Nov 15. Bone. 2023. PMID: 36400164

10

Epidemiology and survival of childhood cancer in Turkey.

Kebudi R, Alkaya DU. Kebudi R, et al. Among authors: alkaya du. Pediatr Blood Cancer. 2021 Feb;68(2):e28754. doi: 10.1002/pbc.28754. Epub 2020 Oct 8. Pediatr Blood Cancer. 2021. PMID: 33034155

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