| POSTER SUNUMLAR |
PS-001 - 0085
A very rare case of metabolic disease with hypolacrima and cerebellar tonsillar herniation
|
Şenol Demir |
PS-002 - 0087
A patient with a novel homozygous CD55 gene mutation and its clinical presentation
|
Fatma Uğuzdoğan |
PS-003 - 0089
Duplication of 10q24.31 in a family with Congenital Nystagmus and Split-hand/foot Malformation
|
Ceren Alavanda |
PS-004 - 0094
A Case Report Of Beaulieu-Boycott-Innes Syndrome Diagnosed In A Newborn
|
Muhammed Burak Bereketoglu |
PS-005 - 0099
Two Cases Reports with Leber Congenital Amarosis and Senior-Loken Syndrome
|
Hanife Saat |
PS-006 - 0109
Identification of Relationship between Multiple Sclerosis and IL-7R Alpha gene T244I (rs6897932 C/T) Polymorphism in Turkish population
|
Ahmet Arman |
PS-007 - 0114
Three rare variants in one patient: A case report
|
Momen Kanjee |
PS-008 - 0116
A Patient with Spinocerebellar Ataxia and Hair Abnormality
|
Mutlu Karkucak |
PS-009 - 0119
Case Report: Description of a Patient with Warkany syndrome 2
|
Fahrettin Duymuş |
PS-010 - 0120
A Novel Germline Mutation in ANKRD11 Gene Causing KBG syndrome: A Case Report
|
Kubra Ates |
PS-011 - 0123
Two siblings with Escobar syndrome
|
Murat Ozturk |
PS-012 - 0126
Thoracic Syringomyelia in A Female Infant Presenting with 17p13.1 Deletion Syndrome
|
Neslihan Cinkara |
PS-013 - 0127
Compound Heterozygous SPINK5 Gene Mutations and Heterozygous FLG Gene Mutation in A Infant with Netherton Syndrome
|
Mutlu Karkucak |
PS-014 - 0132
A Case of Branchio-Otic Syndrome
|
Mustafa Yılmaz |
PS-015 - 0136
A case of partial 2p duplication with novel findings
|
Levent Şimşek |
PS-016 - 0142
Jumping translocation of Chromosome 1q in a Case of Burkitt Lymphoma
|
Betül Turan |
PS-017 - 0164
Uniparental disomic effects by CNVs and structural point mutations in ELN gene: comparison of two cases
|
Yunus Emre Mutluer |
PS-018 - 0108
Association between Sporadic Parkinson Disease and IL-12B Gene Polymorphisms in the Turkish Population
|
Ahmet Arman |
PS-019 - 0110
Investigation of the Effects of Obesity on the Pluripotency Feature of Mouse Adipose Tissue Originated Mesenchymal Stem Cells
|
Zeynep Günaydın |
PS-020 - 0139
Partial monosomy 9q: a novel case with distinct cytogenetic features
|
Sümeyye Kaya |
PS-021 - 0140
Variations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1
|
Betül Okur Altındaş |
PS-022 - 0152
COVID-19 pandemic in patients with familial mediterranean fever; The possible protective role of colchicine in COVID-19 symptoms
|
Mehmet Berkay Akcan |
PS-023 - 0154
The acquisition of mosaic trisomy 8 associated with corpus callosum agenesis in Warkany syndrome 2: A Case Report
|
Menekşe Öztürk |
PS-024 - 0155
ATP7B gene mutations sequenced in 100 patients
|
Sümeye Öztürk |
PS-025 - 0165
De novo GABRB3 c.103G>A mutation detected in a patient with epilepsy and speech retardation: case report
|
Nihan Ecmel Akbaş |
PS-026 - 0167
From tissue to diagnosis; case report with Proteus Syndrome
|
Ahmet Kablan |
PS-027 - 0170
Submicroscopic evaluation with chromosomal microarray to elucidate the genetic etiology of patients with cerebral palsy: A case series report
|
Fatma Sılan |
PS-028 - 0171
NBN gene mutations with clinical spectrum in our patients who applied to our outpatient clinic: Case series
|
Volkan Sonmez |
PS-029 - 0183
Pericentric invertion and duplication deletion of chromosome 8p syndrome: Report of two cases
|
Derya Kaya |
PS-030 - 0184
A rare 22q11.2 microduplication in a boy with poor head control: a case report
|
Kübra Müge Çelik |
PS-031 - 0162
Bloom Syndrome with Wilms’ Tumor: A Case Report
|
Ömer Yakar |
PS-032 - 0175
Two different microdeletion syndromes in two siblings
|
Kübra Metli |
PS-033 - 0102
Identification of a COPA Gene Variant in a Patient with Kidney Involvement and Autoimmunity
|
Mutlu Karkucak |
PS-034 - 0138
Three previously unknown DOCK8 variants in a patient with “Hyper-IgE recurrent infection syndrome” phenotype
|
Ahmet Burak Arslan |
PS-035 - 0169
The role of balanced chromosomal translocation in the etiology of habitual abortion and the importance of traditional karyotype analysis in definitive diagnosis: Case Report
|
Onur Recep Gündüz |
PS-036 - 0194
A male individual with t(2;7)(p23;q35) anomaly: A case report
|
Abdulbaki Yildirim |
PS-037 - 0137
Co-occurrence of 6q25 microdeletion and 14q32 microduplication in a dysmorphic child
|
Hazal Uzun |
PS-038 - 0166
t(11;17) Balanced Reciprocal Translocation Detected in an Infertile Couple: A Case Report
|
Canan Köse |
PS-039 - 0125
Congenital disorder of glycosylation type IIm disease and a novel de novo frameshift mutation in SLC35A2 gene
|
Akif Ayaz |
PS-040 - 0159
Molecular and clinical approach to the MEDNIK-like syndrome
|
Nigar Shirinova |
PS-041 - 0209
Detection and clinical implications of exosome-based EGFR mutations from plasma of non-small cell lung cancer patients
|
Ege Rıza Karagür |
PS-042 - 0213
Molecular investigation of patients diagnosed with Crouzen Syndrome by next-generation sequencing method
|
Damla Badur Mermer |
PS-043 - 0214
A de novo mutation in EHHADH gene in a child with Fanconi Renotubular syndrome-3
|
Mutlu Karkucak |
