Makaleler
Tümü (14)
SCI-E, SSCI, AHCI (14)
SCI-E, SSCI, AHCI, ESCI (14)
Scopus (14)
2019
20191. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A., Jolly A., Bayram Y., Bayram Y., DEMİRCİOĞLU S., Turan S., et al.
The Journal of clinical endocrinology and metabolism
, cilt.104, sa.8, ss.3049-3067, 2019 (SCI-Expanded)
2019
20192. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan D., Pehlivan D., Bayram Y., Bayram Y., Gunes N., Gunes N., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.105, sa.1, ss.132-150, 2019 (SCI-Expanded)
2017
20173. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
BAYRAM Y., WHITE J. J., Elcioglu N., CHO M. T., ZADEH N., Gedikbasi A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.101, sa.1, ss.149-156, 2017 (SCI-Expanded, Scopus)
2016
20164. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
BAYRAM Y., KARACA E., AKDEMIR Z. C., Yilmaz E. O., Tayfun G. A., Aydin H., et al.
JOURNAL OF CLINICAL INVESTIGATION
, cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded)
2015
20155. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
ISRIE M., BREUSS M., Tian G., HANSEN A. H., CRISTOFOLI F., MORANDELL J., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.97, sa.6, ss.790-800, 2015 (SCI-Expanded)
2015
20156. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca E., Karaca E., Harel T., Harel T., Pehlivan D., Pehlivan D., et al.
NEURON
, cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded)
2015
20157. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
GONZAGA-JAUREGUI C., HAREL T., GAMBIN T., Kousi M., GRIFFIN L. B., Francescatto L., et al.
CELL REPORTS
, cilt.12, sa.7, ss.1169-1183, 2015 (SCI-Expanded)
2015
20158. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Pehlivan D., Akdemir Z. C., Karaca E., Bayram Y., Jhangiani S., Yildiz E., et al.
Human genetics
, cilt.134, sa.6, ss.671-3, 2015 (SCI-Expanded)
2015
20159. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
YUAN B., Yuan B., PEHLIVAN D., Pehlivan D., KARACA E., Karaca E., et al.
JOURNAL OF CLINICAL INVESTIGATION
, cilt.125, sa.2, ss.636-651, 2015 (SCI-Expanded)
2014
201410. A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
YAMAMOTO S., JAISWAL M., CHARNG W., GAMBIN T., KARACA E., Mirzaa G., et al.
CELL
, cilt.159, sa.1, ss.200-214, 2014 (SCI-Expanded)
2014
201411. Human CLP1 mutations alter tRNA biogenesis, Affecting both peripheral and central nervous system function
KARACA E., Karaca E., Weitzer S., WEITZER S., PEHLIVAN D., Pehlivan D., et al.
Cell
, cilt.157, sa.3, ss.636-650, 2014 (SCI-Expanded)
2013
201312. A Complete Gonadal Dysgenesis Case with Mental Retardation, Congenital Hip Dislocation, Severe Vertebra Rotoscoliosis, Pectus Excavatus, and Spina Bifida Occulta
Dane C., Karaca A., Karaca E., Dane B.
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
, cilt.26, sa.1, ss.19-21, 2013 (SCI-Expanded)
2013
201313. Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder
Karaca E., Karakoc-Aydiner E., Bayrak O. F., Keles S., Sevli S., Barlan I. B., et al.
GENE
, cilt.512, sa.2, ss.189-193, 2013 (SCI-Expanded)
2009
200914. Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation
Yuksel A., Karaca E., Albayram M. S.
JOURNAL OF CHILD NEUROLOGY
, cilt.24, sa.1, ss.93-96, 2009 (SCI-Expanded)