Gökpınar İli E - Search Results

1

Diagnostic Challenges in a Family with Dominant Dystrophic Epidermolysis Bullosa and Isolated Hereditary Nail Disorder: Paternal Gonosomal Mosaicism for COL7A1 Mutation and Maternal RSPO4 Variant.

Öktem A, Özaydın B, Gündüz K, Gökpınar İli E, Şanlı H, Kaplan İ, Yürür Kutlay N. Öktem A, et al. Among authors: gokpinar ili e. Clin Exp Dermatol. 2024 Jun 3:llae215. doi: 10.1093/ced/llae215. Online ahead of print. Clin Exp Dermatol. 2024. PMID: 38828627

2

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.

Yavas Abali Z, Gokpinar Ili E, Bas F, Ulak Ozkan M, Gulec Ç, Toksoy G, Ozturk AP, Karakilic Ozturan E, Aslanger A, Caliskan M, Yesil G, Poyrazoglu S, Darendeliler F, Oya Uyguner Z. Yavas Abali Z, et al. Among authors: gokpinar ili e. Horm Res Paediatr. 2024;97(2):157-164. doi: 10.1159/000532000. Epub 2023 Jul 18. Horm Res Paediatr. 2024. PMID: 37463572 Free article.

3

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Among authors: gokpinar ili e. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738

4

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Gökpınar İli E, Taşdelen E, Durmaz CD, Altıner Ş, Tuncalı T, Martinez-Glez V, Karabulut HG, Vural S, Ceylaner S, Acar MO, Ilgın Ruhi H. Gökpınar İli E, et al. Am J Med Genet A. 2022 Jun;188(6):1792-1800. doi: 10.1002/ajmg.a.62709. Epub 2022 Mar 2. Am J Med Genet A. 2022. PMID: 35238469

5

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.

Kalay Yildizhan I, Gökpınar İli E, Onoufriadis A, Kocyigit P, Kesidou E, Simpson MA, McGrath JA, Kutlay NY, Kundakci N. Kalay Yildizhan I, et al. Among authors: gokpinar ili e. Cytogenet Genome Res. 2020;160(9):523-530. doi: 10.1159/000511126. Epub 2020 Nov 6. Cytogenet Genome Res. 2020. PMID: 33161406

6

Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.

Ertop P, Vural S, Gökpınar Ili E, Durmaz CD, Heper AO, McGrath JA, Ilgın RH, Boyvat A. Ertop P, et al. Among authors: gokpinar ili e. Int J Dermatol. 2020 Jul;59(7):851-855. doi: 10.1111/ijd.14951. Epub 2020 Jun 7. Int J Dermatol. 2020. PMID: 32506551

7

Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature.

Gökpınar İli E, Altıner Ş, Karabulut HG. Gökpınar İli E, et al. Cytogenet Genome Res. 2019;159(2):74-80. doi: 10.1159/000503574. Epub 2019 Oct 26. Cytogenet Genome Res. 2019. PMID: 31658462

8

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Vural S, Gündoğdu M, Gökpınar İli E, Durmaz CD, Vural A, Steinmüller-Magin L, Kleinhempel A, Holdt LM, Ruzicka T, Giehl KA, Ruhi HI, Boyvat A. Vural S, et al. Among authors: gokpinar ili e. Br J Dermatol. 2019 Jun;180(6):1459-1467. doi: 10.1111/bjd.17466. Epub 2019 Feb 20. Br J Dermatol. 2019. PMID: 30488432

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