Yesil G - Search Results

1

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Aslanger AD, Demiral E, Sonmez-Sahin S, Guler S, Goncu B, Yucesan E, Iscan A, Saltik S, Yesil G. Aslanger AD, et al. Among authors: yesil g. Neuropediatrics. 2020 Dec;51(6):430-434. doi: 10.1055/s-0040-1710526. Epub 2020 May 5. Neuropediatrics. 2020. PMID: 32369837 Review.

2

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. Yalcinkaya C, et al. Among authors: yesil g. Neuropediatrics. 2012 Jun;43(3):159-61. doi: 10.1055/s-0032-1313912. Epub 2012 May 19. Neuropediatrics. 2012. PMID: 22610664

3

Report of a patient with Temple-Baraitser syndrome.

Yesil G, Guler S, Yuksel A, Alanay Y. Yesil G, et al. Am J Med Genet A. 2014 Mar;164A(3):848-51. doi: 10.1002/ajmg.a.36344. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357613 No abstract available.

4

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Among authors: yesil g. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420144

5

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Güler S, Yeşil G, Önal H. Güler S, et al. Among authors: yesil g. Balkan Med J. 2017 Dec 1;34(6):522-526. doi: 10.4274/balkanmedj.2015.1717. Epub 2017 May 29. Balkan Med J. 2017. PMID: 28552839 Free PMC article.

6

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Bektaş G, et al. Among authors: yesil g. Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. Turk J Pediatr. 2017. PMID: 29376581 Free article.

Bektas G, Yesil G, Yildiz EP, Aydinli N, Caliskan M, Ozmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. ...

Bektas G, Yesil G, Yildiz EP, Aydinli N, Caliskan M, Ozmen M. Hereditary spastic paraplegia type 35 caused by a novel F …

7

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.

Yeşil G, Aralaşmak A, Akyüz E, İçağasıoğlu D, Uygur Şahin T, Bayram Y. Yeşil G, et al. Balkan Med J. 2018 Jul 24;35(4):336-339. doi: 10.4274/balkanmedj.2017.0986. Epub 2018 Mar 16. Balkan Med J. 2018. PMID: 29545233 Free PMC article.

8

Vanishing white matter disease with different faces.

Güngör G, Güngör O, Çakmaklı S, Maraş Genç H, İnce H, Yeşil G, Dilber C, Aydın K. Güngör G, et al. Among authors: yesil g. Childs Nerv Syst. 2020 Feb;36(2):353-361. doi: 10.1007/s00381-019-04334-6. Epub 2019 Aug 5. Childs Nerv Syst. 2020. PMID: 31385086

9

A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.

Kardelen Al AD, Poyrazoğlu Ş, Aslanger A, Yeşil G, Ceylaner S, Baş F, Darendeliler F. Kardelen Al AD, et al. Among authors: yesil g. Horm Res Paediatr. 2019;92(6):395-403. doi: 10.1159/000506740. Epub 2020 Apr 28. Horm Res Paediatr. 2019. PMID: 32344415 Free article. Review.

10

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B. Uludağ Alkaya D, et al. Among authors: yesil g. Am J Med Genet A. 2021 Dec;185(12):3623-3633. doi: 10.1002/ajmg.a.62410. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184824

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