Alikasifoglu M - Search Results

1

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Vuralli D, Kosukcu C, Taskiran E, Simsek-Kiper PO, Utine GE, Boduroglu K, Alikasifoglu A, Alikasifoglu M. Vuralli D, et al. Among authors: alikasifoglu a, alikasifoglu m. Mol Syndromol. 2020 Nov;11(4):207-216. doi: 10.1159/000510171. Epub 2020 Sep 16. Mol Syndromol. 2020. PMID: 33224014 Free PMC article.

2

Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.

Taylan Sekeroglu H, Karaosmanoglu B, Taskiran EZ, Simsek Kiper PO, Alikasifoglu M, Boduroglu K, Coskun T, Utine GE. Taylan Sekeroglu H, et al. Among authors: alikasifoglu m. Mol Syndromol. 2020 Dec;11(5-6):302-308. doi: 10.1159/000510481. Epub 2020 Sep 9. Mol Syndromol. 2020. PMID: 33510601 Free PMC article.

3

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Among authors: alikasifoglu m. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

4

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Doğan ÖA, et al. Among authors: alikasifoglu m. Korean J Fam Med. 2017 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102. Epub 2017 Mar 22. Korean J Fam Med. 2017. PMID: 28360987 Free PMC article.

5

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M. Taskiran EZ, et al. Among authors: alikasifoglu m. Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8. Am J Med Genet A. 2017. PMID: 28988429

6

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Ürel Demir G, Doğan ÖA, Şimşek Kiper PÖ, Utine GE, Boduroğlu K, Gucer S, Alikaşifoğlu M. Ürel Demir G, et al. Among authors: alikasifoglu m. Fetal Pediatr Pathol. 2017 Dec;36(6):445-451. doi: 10.1080/15513815.2017.1379039. Epub 2017 Dec 8. Fetal Pediatr Pathol. 2017. PMID: 29220612

7

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K. Simsek-Kiper PO, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25. Eur J Med Genet. 2019. PMID: 29704686

8

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Simsek-Kiper PO, et al. Among authors: alikasifoglu m. Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063090

9

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö, Demir GÜ, Kosukcu C, Taskiran EZ, Simsek-Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. Akgün Doğan Ö, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11. Eur J Med Genet. 2019. PMID: 30217754

10

Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. Guleray N, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2019 Nov;62(11):103585. doi: 10.1016/j.ejmg.2018.11.019. Epub 2018 Nov 27. Eur J Med Genet. 2019. PMID: 30496831

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