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Fatma Sılan

Faculty of Medicine

17H指数
161论文数
1.2K被引数
收录论文 31
发表时间
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DHCR24-Related Desmosterolosis in the First Reported Turkish Patient: Expanding the Genotypic and Phenotypic SpectrumDHCR24相关脱氢表雄酮血症在首例报告的土耳其患者中的发现：扩展基因型和表型谱
errJournal of Clinical Lipidology
IF4.6
err2025-11-15
err0
PREAI
errCanan Ceylan Kose; Fehime Erdem; Mehmet Berkay Akcan; Havva Yazıcı; Turgay Cokyaman; Ebru Canda; Fatma Sılan
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CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
errLIFE SCIENCE ALLIANCE
IF2.9
err2024-08-21
err2
errOAAI
errKim, Angelina Haesoo; Sakin, Irmak; Viviano, Stephen; Tuncel, Gulten; Aguilera, Stephanie Marie; Goles, Gizem; Jeffries, Lauren; Ji, Weizhen; Lakhani, Saquib A.; Kose, Canan Ceylan; Silan, Fatma; Oner, Sukru Sadik; Kaplan, Oktay, I; Ergoren, Mahmut Cerkez; Mishra-Gorur, Ketu; Gunel, Murat; Sag, Sebnem Ozemri; Temel, Sehime G.; Deniz, Engin
err分享
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Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene
errFRONTIERS IN ENDOCRINOLOGY
IF4.6
err2023-12-07
err2
errOAAI
errDogan, Durmus; Ozcan, Eda Gul; Cakir, Dilek Ulker; Silan, Fatma
err分享
err收藏
Blau syndrome with a rare mutation in exon 9 of NOD2 gene
errAUTOIMMUNITY
IF3.1
err2019-09-26
err6
PREAI
errVelickovic, Jelena; Silan, Fatma; Bir, Firdevs Dincsoy; Silan, Coskun; Albuz, Burcu; Ozdemir, Ozturk
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2019-07-01
err78
errOAAI
errPehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R.
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Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errSilan, Fatma; Karakaya, Taner; Bir, Firdevs Dincsoy; Paksoy, Baris; Ozdemir, Ozturk
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Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errSilan, Coskun; Urfali, Mine; Ozdemir, Ozturk; Silan, Fatma
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Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errOzdemir, Ozturk; Karakaya, Taner; Bir, Firdevs Dincsoy; Yildiz, Onur; Silan, Fatma
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A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errBir, Firdevs Dincsoy; Ozdemir, Ozturk; Karakaya, Taner; Yildiz, Onur; Silan, Fatma
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err收藏
Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errSilan, Fatma; Djurovic, Jelena; Bir, Firdevs Dincsoy; Silan, Coskun; Ozdemir, Ozturk
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
errHUMAN GENETICS
IF3.6
err2018-07-07
err26
errOAAI
errBademci, Guney; Abad, Clemer; Incesulu, Armagan; Rad, Abolfazl; Alper, Ozgul; Kolb, Susanne M.; Cengiz, Filiz B.; Diaz-Horta, Oscar; Silan, Fatma; Mihci, Ercan; Ocak, Emre; Najafi, Maryam; Maroofian, Reza; Yilmaz, Elanur; Nur, Banu G.; Duman, Duygu; Guo, Shengru; Sant, David W.; Wang, Gaofeng; Monje, Paula V.; Haaf, Thomas; Blanton, Susan H.; Vona, Barbara; Walz, Katherina; Tekin, Mustafa
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A balanced non-reciprocal translocated case with recurrent abortions: The importance and validity of conventional cytogenetics analysis in balanced translocations detection when comparing to the MicroArray-CGH technique
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2017-08-01
err0
PREAI
errOzdemir, Ozturk; Urfali, Mine; Paksoy, Baris; Karakaya, Taner; Yildiz, Onur; Silan, Fatma
err分享
err收藏
The comparison of telomeric DNA length in different biological materials in various cancers by real-time PCR amplification of circulating tumour DNA
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2017-08-01
err0
PREAI
errUrfali, Mine; Silan, Fatma; Ozdemir, Ozturk
err分享
err收藏
Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2017-08-01
err0
PREAI
errSilan, Fatma; Paksoy, Baris; Urfali, Mine; Karakaya, Taner; Ozdemir, Ozturk
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The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2017-08-01
err0
PREAI
errOzdemir, Ozturk; Yildiz, Onur; Karakaya, Taner; Paksoy, Baris; Urfali, Mine; Silan, Fatma
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err收藏
A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype-phenotype correlation in a case report
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2017-08-01
err0
PREAI
errSilan, Fatma; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Ozdemir, Ozturk
err分享
err收藏
Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2016-08-01
err0
PREAI
errSilan, Fatma; Paksoy, Baris; Ozdemir, Ozturk
err分享
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Assessment of BMP-6 polymorphism and relationship with disease activity in Ankylosing Spondylitis patients
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2016-08-01
err0
PREAI
errOztopuz, R. Ozlem; Silan, Fatma; Akbal, Ayla; Coskun, Ozlem; Ozdemir, Ozturk
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Alterations in the telomere length distribution of cell-free DNA in human cancer
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2016-08-01
err0
PREAI
errUrfali, Mine; Silan, Fatma; Tan, Yusuf Ziya; Celiker, Fatmanur; Guler, Zeliha; Ozdemir, Ozturk
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The thrombophilic gene polymorphisms and recurrent pregnancy loss dilemma: From Minsk/Belarus and Canakkale - Sivas/Turkish populations
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2016-08-01
err0
PREAI
errSilan, Fatma; Mosse, Irma; Gonchar, Alexander; Sedlyar, Nikita; Kilchevsky, Alexander V.; Kuru, Banu; Ozdemir, Ozturk; Ozdemir, Ozturk
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研究方向

暂时未获取到该数据
合作学者
合作期刊
E
Eric Boerwinkle
H 指数: 215 · 论文数: 2.0K
R
Richard A. Gibbs
H 指数: 190 · 论文数: 1.3K
J
James R. Lupski
H 指数: 144 · 论文数: 1.1K
S
Stefan Mundlos
H 指数: 109 · 论文数: 758
A
Andrew O.M. Wilkie
H 指数: 89 · 论文数: 466
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