Ferda Emriye Perçin

Akademik Profiller

1. 1
   A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalitiesAmerican Journal of Medical Genetics, Part A
   2022
2. 2
   Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics ConsortiumFunctional and Integrative Genomics
   2022
3. 3
   Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndromeEuropean Journal of Medical Genetics
   2021
4. 4
   Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from TurkeyMolecular Biology Reports
   2021
5. 5
   Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?Turkish Journal of Medical Sciences
   2021
6. 6
   Aetiological evaluation of oligodontia in a three-generation familyOral Health and Preventive Dentistry
   2020
7. 7
   Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular AtrophyGenetic Testing and Molecular Biomarkers
   2020
8. 8
   Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity MappingCytogenetic and Genome Research
   2020
9. 9
   A new approach (EDIZ) for big data variant prioritizationNetwork Modeling Analysis in Health Informatics and Bioinformatics
   2019
10. 10
    An eight-case 1q21 region series: novel aberrations and clinical variability with new featuresJournal of Intellectual Disability Research
    2019

Yayın listesi ORCID kaydından alındı.