SÖZEL SUNUMLAR - 1
Oturum Başkanları : Emine Berrin YÜKSEL, Asude DURMAZ
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| 20 Şubat 2020, Perşembe | 16:10-19:00 | Salon A |
| SS-20-101 |
0001 |
The sexual and psychological conditions of male patients with Klinefelter syndrome and vasal agenesis |
Numan BAYDİLLİ |
| SS-20-102 |
0005 |
Family screening of a child with Werdnig-Hoffman's disease by MLPA |
Malik Ejder YILDIRIM |
| SS-20-103 |
0007 |
Lethal skeletal dysplasias |
Emine AYDIN |
| SS-20-104 |
0009 |
WES in a Family with Vestibular Problems and Hearing Loss |
Yunus ARIKAN |
| SS-20-105 |
0059 |
A case with recurrent pneumonia and cystic lung disease |
Hamza POLAT |
| SS-20-106 |
0019 |
Novel RAB3GAP1 mutation causing Warburg Micro syndrome in Turkish girl |
Özden ÖZTÜRK |
| SS-20-107 |
0025 |
The frequency of CCR5 ∆32 gene variant in the Turkish Cypriot population and Nigerian and Zimbabwean populations living in North Cyprus |
Havva ÇOBANOĞULLARI |
| SS-20-108 |
0026 |
Serum expression level of miR-15a and miR-190b were significantly lower in delirious state when compared with non-delirious state with similar underlying diseases |
Mehmet Bugrahan DÜZ |
| SS-20-109 |
0030 |
Genetics of Coronary Atherosclerosis; A case report |
Hanife SAAT |
| SS-20-110 |
0031 |
A tangier family with mutation of ABCA1 chromosom 9q31 locus |
Selcan ÖZTÜRK |
| SS-20-111 |
0033 |
Clinical Utility of a Multigene Panel For Hematologic Malignancies |
Sevcan Tug BOZDOGAN |
| SS-20-112 |
0037 |
Investigation of miR-145 target genes in multiple myeloma cell lines |
Murat KAYA |
| SS-20-113 |
0060 |
A case of Myhre syndrome with a very rare finding: Severe constipation |
Neslihan CİNKARA |
| SS-20-114 |
0039 |
Identifying new players in fetal haemoglobin expression, from cell cultures' bioinformatic to banchtop. |
Yunus ARIKAN |
| SS-20-115 |
0045 |
Is I-FISH competing with metaphase FISH and cytogenetics, in the diagnosis of prenatal interchange trisomy 21 |
Elvin KAZANCIOĞLU |
| SS-20-116 |
0049 |
Autosomal Recessive Form of Clouston Syndrome? |
Muhammer Özgür ÇEVİK |
| SS-20-117 |
0053 |
From Pediatric Emergency To Genetics |
Feyza Hüsrevoğlu ESEN |
| SS-20-118 |
0057 |
A rare cancer predisposition disorder: DICER1 Syndrome |
Hamza POLAT |
SÖZEL SUNUMLAR - 2
Oturum Başkanları : Haydar BAĞIŞ, Gökhan OZAN ÇETİN
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| 20 Şubat 2020, Perşembe | 16:10-19:00 | Salon B |
| SS-20-201 |
0104 |
Reanalysis of trio whole exome sequencing (WES) data with a novel variant prioritization workflow reveals a de-novo missense variant in EBF3 gene associated with hypotonia and developmental delay |
Burcu Bakır GÜNGÖR
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| SS-20-202 |
0093 |
Developing evidence based computerized diagnostic tools for breast cancer early prediction |
Gulten TUNCEL |
| SS-20-203 |
0061 |
ZBTB24 novel mutation identified in Turkish ICF syndrome patient |
Ayşe İLKER |
| SS-20-204 |
0066 |
Is Autosomal Dominant Hyperlipidemia Genetic Testing Crucial for Risk Analysis? |
İpek YILMAZ |
| SS-20-205 |
0068 |
A case with multiple reciprocal balanced translocations with primary infertility |
Mert PEKERBAŞ |
| SS-20-206 |
0090 |
Molecular genetic characterization of {ABCA4} gene in Stargardt disease |
Ahmet ARMAN |
| SS-20-207 |
0070 |
Effect of Histon Deacetylase Inhibitor Vorinostat on Gene Expression in Polarized Macrophages |
Samet TÜREL |
| SS-20-208 |
0072 |
A rare dısease: ullrıch congenıtal muscular dystrophy |
Fahrettin DUYMUŞ |
| SS-20-209 |
0073 |
Clinical impact of a targeted next-generation sequencing gene panel for immunodeficiency- Our first results |
Yasemin Kendir DEMİRKOL |
| SS-20-210 |
0074 |
A novel mutation of infantile epileptic encephalopathy type 9; a rare genetic disorder with an interesting inheritance pattern |
Çiğdem Yüce KAHRAMAN |
| SS-20-211 |
0075 |
A Patient with Two De Novo Variants, One Causes Recessive and Other Causes Dominant Disorder |
Özge Beyza Gündoğdu ÖĞÜTLÜ |
| SS-20-212 |
0076 |
A single center experience: Challenges and advices in reporting of incidental findings in Whole Exome Sequencing |
Akif AYAZ |
| SS-20-213 |
0078 |
The utility of whole exome sequencing in the diagnosis of rare skeletal dysplasias: Ege experience |
Duygu ARICAN |
| SS-20-214 |
0079 |
Evaluation of clinical, cardiological and possible causes of inherited thrombophilia risk of patients with Down Syndrome |
Recep ERÖZ |
| SS-20-215 |
0082 |
Hypohidrotic ectodermal dysplasia: A novel mutation in the {EDA} gene |
Mikail DEMİR |
| SS-20-216 |
0094 |
An extremely rare condition Rhizomelic chondrodysplasia punctata type 5 in a large kindred Turkish family |
Meryem BETMEZOĞLU |
| SS-20-217 |
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| SS-20-218 |
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SÖZEL SUNUMLAR - 3
Oturum Başkanları : Sevcan BOZDOĞAN, Zühal ALTINTAŞ, Burak DURMAZ
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| 21 Şubat 2020, Cuma | 17:10-19:00 | Salon A |
| SS-21-301 |
0038 |
Targeted next-generation sequencing for Limb-Girdle Muscular Dystrophies achieves a high diagnostic yield |
Büşranur ÇAVDARLI |
| SS-21-302 |
0011 |
Next-generation sequencing based panel testing for primary myelofibrosis |
Taha BAHSİ |
| SS-21-303 |
0096 |
Clinical, electrodiagnostic, and genetic features of Kennedy disease (spinal and bulbar muscular atrophy) in a patient with proximal muscle weakness |
Mehmet Fatih YETKİN |
| SS-21-304 |
0100 |
An unexpected patient with recently named mental retardation. The report of the very first case of GATAD2B-related neurodevelopmental disorder in Turkey |
Huseyn BABABYEV |
| SS-21-305 |
0103 |
A unique cytogenetic progression pattern of a chronic myeloid leukemia patient |
Emin KARACA |
| SS-21-306 |
0104 |
Reanalysis of trio whole exome sequencing (WES) data with a novel variant prioritization workflow reveals a de-novo missense variant in EBF3 gene associated with hypotonia and developmental delay. |
Burcu Bakır GÜNGÖR |
| SS-21-307 |
0106 |
Missense rarely mutation, c.435 T>G, on MSH2 gene of breast cancer |
Aydın DEMİRAY |
| SS-21-308 |
0107 |
Two siblings with IL11RA mutation: the rare cause of autosomal recessive craniosynostosis |
Emre KİRAT |
| SS-21-309 |
0108 |
4 years old boy with Sotos Syndrome: A Case Report |
Nedim KARAGENÇ |
| SS-21-310 |
0109 |
Submicroscopic insertion of PML segment into RARA on chromosome 17q resulting a very rare variant of PML-RARA fusion in acute promyelocytic leukemia |
Burak DURMAZ |
| SS-21-311 |
0110 |
Pathogenic Variations of {MUTYH} Gene in Hereditary Cancer Cases |
Altuğ KOÇ |
| SS-21-312 |
0111 |
MODY genetics: novel variants and genotype-phenotype correlation |
Seray BOZKURT |
SÖZEL SUNUMLAR - 4
Oturum Başkanları : Hilmi TOZKIR, Muhammet DOĞAN, Arslan BAYRAM
|
| 21 Şubat 2020, Cuma | 17:10-19:00 | Salon B |
| SS-21-401 |
0112 |
Genetic analyses in understanding of renal tubulopathies |
Demet KEMER |
| SS-21-402 |
0115 |
A newborn of fatal surfactant metabolism dysfunction with homozygous mutation in ABCA3 gene |
Ümmet ABUR |
| SS-21-403 |
0116 |
A Case of Ovarian Cancer with Double Heterozygous Mutations in BRCA1 and BRCA2 genes |
Ömer Salih AKAR |
| SS-21-404 |
0117 |
Multiple neurodevelopmental disorder and CNTNAP2 gene deletion |
Halil ÖZBAŞ |
| SS-21-405 |
0118 |
Incidentally identified a MYL2 gene variant responsible for cardiomyopathy during moleculer analysis of Hermansky Pudlak Syndrome: Evaluation of incidentally detected variants in whole-exome sequencing analysistd>
| Tuba Sözen TÜRK |
| SS-21-406 |
0119 |
Clinical Exome Sequencing Analysis of A Patient With Corneal Distrophy |
Onur TOKGÜN |
| SS-21-407 |
0120 |
The Importance Of The Integrated Molecular Approach To Glycogen Storage Disease Ethiology |
Ebru TUNÇEZ |
| SS-21-408 |
0016 |
Investigation of receptor-ligand gene pair mutations in hypogonadotropic hypogonadism |
Leman Damla Kotan GEDİK |
| SS-21-409 |
0069 |
The evaluation of 36 Turner Syndrome cases with cytogenetic findings and clinical features of amenorrhea and premature ovarian failure. |
Ferah KAZANCI |
