Elif Yilmaz Gulec
Elif Yilmaz Gulec
İstanbul Medeniyet Üniversitesi, Tıbbi Genetik Anabilim Dalı
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Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome
JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ...
The American Journal of Human Genetics 102 (1), 27-43, 2018
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
NT Loges, D Antony, A Maver, MA Deardorff, EY Güleç, A Gezdirici, ...
The American Journal of Human Genetics 103 (6), 995-1008, 2018
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ...
The American Journal of Human Genetics 105 (1), 132-150, 2019
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ...
Annals of clinical and translational neurology 5 (10), 1277-1285, 2018
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
A Ozantürk, JD Marshall, GB Collin, S Düzenli, RP Marshall, Ş Candan, ...
Journal of human genetics 60 (1), 1-9, 2015
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ...
The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants
EMC Hamilton, P Tekturk, F Cialdella, DF van Rappard, NI Wolf, ...
Neurology 90 (16), e1395-e1403, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
A Ta-Shma, R Hjeij, Z Perles, GW Dougherty, I Abu Zahira, SJF Letteboer, ...
PLoS genetics 14 (8), e1007602, 2018
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
L Ma, Y Bayram, HM McLaughlin, MT Cho, A Krokosky, CE Turner, ...
Human genetics 135 (12), 1399-1409, 2016
Detection of Y chromosomal material in patients with a 45, X karyotype by PCR method
CN Semerci, NL Satiroglu-Tufan, S Turan, A Bereket, B Tuysuz, E Yilmaz, ...
The Tohoku Journal of Experimental Medicine 211 (3), 243-249, 2007
Cernunnos/XLF deficiency: a syndromic primary immunodeficiency
FE Çipe, C Aydogmus, A Babayigit Hocaoglu, M Kilic, GD Kaya, ...
Case Reports in Pediatrics 2014, 2014
Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies
CR Ferreira, K Kintzinger, ME Hackbarth, U Botschen, Y Nitschke, ...
Journal of Bone and Mineral Research 36 (11), 2193-2202, 2021
Prenatal diagnosis of persistent hyperplastic primary vitreous: report of 2 cases and review of the literature
AC Esmer, TS Sivrikoz, EY Gulec, S Sezer, I Kalelioglu, R Has, A Yuksel
Journal of Ultrasound in Medicine 35 (10), 2285-2291, 2016
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
A Beyens, E Moreno‐Artero, C Bodemer, H Cox, A Gezdirici, ...
Experimental dermatology 28 (10), 1142-1145, 2019
Effect of different storage conditions on COVID‐19 RT‐PCR results
E Yilmaz Gulec, NP Cesur, G Yesilyurt Fazlioğlu, C Kazezoğlu
Journal of Medical Virology 93 (12), 6575-6581, 2021
Baylor-Hopkins Center for Mendelian Genomics
D Pehlivan, Y Bayram, N Gunes, Z Coban Akdemir, A Shukla, T Bierhals, ...
The genomics of arthrogryposis, a complex trait: candidate genes and further …, 2019
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ...
The American Journal of Human Genetics 108 (10), 1981-2005, 2021
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
EY Gulec, Z Ocak, S Candan, E Ataman, C Yarar
International journal of cardiology 186, 13-15, 2015
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
L Pottie, CS Adamo, A Beyens, S Lütke, P Tapaneeyaphan, A De Clercq, ...
The American Journal of Human Genetics 108 (6), 1095-1114, 2021
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