Coker M - Search Results

1

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Chong B, et al. Among authors: coker m. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095. J Bone Miner Res. 2003. PMID: 14672344 Free article.

2

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Grünert SC, et al. Among authors: coker m. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740

3

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F. Schreml J, et al. Among authors: coker m. Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27. Hum Genet. 2014. PMID: 23982343

4

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M. Okubo M, et al. Among authors: coker m. Clin Chim Acta. 2015 Jan 15;439:162-7. doi: 10.1016/j.cca.2014.10.016. Epub 2014 Oct 23. Clin Chim Acta. 2015. PMID: 25451950

5

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.

Onay H, Bolat H, Kılıç Yıldırım G, Kose E, Kalkan Uçar S, Aşıkovalı S, Özkınay F, Çoker M. Onay H, et al. Among authors: coker m. J Pediatr Endocrinol Metab. 2020 Aug 19;33(10):1245-1250. doi: 10.1515/jpem-2020-0056. J Pediatr Endocrinol Metab. 2020. PMID: 32813676 Review.

6

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Durmaz A, Atik T, Onay H, Canda EE, Uçar SK, Bademkıran F, Coker M, Coğulu Ö, Özkınay F. Durmaz A, et al. Among authors: coker m. Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1. Metab Brain Dis. 2014. PMID: 24788897

7

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F. Kose M, et al. Among authors: coker m. Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33134083 Free PMC article.

8

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F. Aykut A, et al. Among authors: coker m. Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22. Gene. 2013. PMID: 23618813

9

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F. Isik E, et al. Among authors: coker m. Eur J Med Genet. 2019 Oct;62(10):103725. doi: 10.1016/j.ejmg.2019.103725. Epub 2019 Jul 15. Eur J Med Genet. 2019. PMID: 31319225

10

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F, Coker M. Canda E, et al. Among authors: coker m. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):917-926. doi: 10.1515/jpem-2018-0148. J Pediatr Endocrinol Metab. 2018. PMID: 29995633 Free article. Clinical Trial.

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