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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000703. doi: 10.1101/mcs.a000703.
Cold Spring Harb Mol Case Stud. 2016.
PMID: 27148584
Free PMC article.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Matalonga L, et al.
J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30.
J Mol Diagn. 2020.
PMID: 32619640
Free PMC article.
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Maple syrup urine disease: mutation analysis in Turkish patients.
Dursun A, Henneke M, Ozgül K, Gartner J, Coşkun T, Tokatli A, Kalkanoğlu HS, Demirkol M, Wendel U, Ozalp I.
Dursun A, et al.
J Inherit Metab Dis. 2002 May;25(2):89-97. doi: 10.1023/a:1015668425004.
J Inherit Metab Dis. 2002.
PMID: 12118532
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The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.
Kiratli H, Irkeç M, Ozgül K, Ogüş A.
Kiratli H, et al.
Eur J Ophthalmol. 2001 Oct-Dec;11(4):333-7. doi: 10.1177/112067210101100403.
Eur J Ophthalmol. 2001.
PMID: 11820303
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
Gücüyener K, Ozgül K, Paternotte C, Erdem H, Prud'homme JF, Ozgüç M, Topaloğlu H.
Gücüyener K, et al.
Neuropediatrics. 2001 Jun;32(3):142-6. doi: 10.1055/s-2001-16616.
Neuropediatrics. 2001.
PMID: 11521210
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STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.
Halacli SO, Ayvaz DC, Sun-Tan C, Erman B, Uz E, Yilmaz DY, Ozgul K, Tezcan İ, Sanal O.
Halacli SO, et al.
Clin Immunol. 2015 Dec;161(2):316-23. doi: 10.1016/j.clim.2015.06.010. Epub 2015 Jun 25.
Clin Immunol. 2015.
PMID: 26117625
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