Kenis V - Search Results

1

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL. Markova TV, et al. Among authors: kenis v. Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315254 Free PMC article.

2

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Kenis V, Baindurashvili A, Melchenko E, Grill F, Al Kaissi A. Kenis V, et al. Ger Med Sci. 2011;9:Doc25. doi: 10.3205/000148. Epub 2011 Sep 20. Ger Med Sci. 2011. PMID: 21966286 Free PMC article.

3

Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.

Kenis V, Baindurashvili A, Melchenko E, Ganger R, Grill F, Al Kaissi A. Kenis V, et al. Ger Med Sci. 2013;11:Doc06. doi: 10.3205/000174. Epub 2013 Mar 28. Ger Med Sci. 2013. PMID: 23555318 Free PMC article.

4

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S. Markova T, et al. Among authors: kenis v. Genes (Basel). 2022 Jan 13;13(1):137. doi: 10.3390/genes13010137. Genes (Basel). 2022. PMID: 35052477 Free PMC article.

5

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Among authors: kenis v. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.

6

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. Among authors: kenis v. NPJ Genom Med. 2022 Jul 26;7(1):44. doi: 10.1038/s41525-022-00315-y. NPJ Genom Med. 2022. PMID: 35882863 Free PMC article.

7

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. Among authors: kenis v. NPJ Genom Med. 2022 Nov 14;7(1):66. doi: 10.1038/s41525-022-00337-6. NPJ Genom Med. 2022. PMID: 36376332 Free PMC article. No abstract available.

8

A new family with epiphyseal chondrodysplasia type Miura.

Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O. Kenis V, et al. Am J Med Genet A. 2021 Jan;185(1):112-118. doi: 10.1002/ajmg.a.61923. Epub 2020 Oct 19. Am J Med Genet A. 2021. PMID: 33073519

9

Infantile systemic hyalinosis: Variable grades of severity.

Al Kaissi A, Hilmi M, Betadolova Z, Bouchoucha S, Trofimova S, Shboul M, Rustamov G, Dwera W, Sigl K, Kenis V, Kircher SG. Al Kaissi A, et al. Among authors: kenis v. Afr J Paediatr Surg. 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20. Afr J Paediatr Surg. 2021. PMID: 34341308 Free PMC article.

10

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Al Kaissi A, Ryabykh S, Nassib N, Bouchoucha S, Benjemaa L, Rejeb I, Hizem S, Kenis V, Grill F, Kircher SG, Shboul M, Ben Chehida F. Al Kaissi A, et al. Among authors: kenis v. Diagnostics (Basel). 2022 Sep 30;12(10):2375. doi: 10.3390/diagnostics12102375. Diagnostics (Basel). 2022. PMID: 36292064 Free PMC article.

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