Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

por Yalcintepe, Sinem, Demir, Selma, Atli, Emine Ikbal, Deveci, Murat, Atli, Engin, Gurkan, Hakan
Publicado 2020

Bilateral Femoral Neuropathy Following Psoas Muscle Hematomas Caused by Enoxaparin Therapy

por Macauley, Precious, Soni, Parita, Akkad, Isaac, Demir, Selma, Shankar, Shyam, Kakar, Parul, Bhardwaj, Sharonlin
Publicado 2017

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

por Eker, Damla, Gurkan, Hakan, Karal, Yasemin, Yalcintepe, Sinem, Demir, Selma, Atli, Engin, Karasalihoglu, Serap T.
Publicado 2022

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

por Atlı, Engin, Gürkan, Hakan, Güldiken, Babürhan, Eker, Damla, Yalçıntepe, Sinem, Demir, Selma, Atlı, Emine İkbal
Publicado 2023

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

por Çömlek, Fatma Özgüç, Demir, Selma, Gürkan, Hakan, İnan, Mustafa, Sezer, Atakan, Dilek, Emine, Kökenli, Filiz Tütüncüler
Publicado 2022

Clinical Features of Aberrations Chromosome 22q: A Pilot Study

por Atli, Emine Ikbal, Atli, Engin, Yalcintepe, Sinem, Demir, Selma, Mail, Cisem, Eker, Damla, Ozen, Yasemin, Gurkan, Hakan
Publicado 2021

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

por Atli, Emine Ikbal, Atli, Engin, Yalcintepe, Sinem, Demir, Selma, Kalkan, Rasime, Akurut, Cisem, Ozen, Yasemin, Gurkan, Hakan
Publicado 2021

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

por Demir, Selma, Yalçıntepe, Sinem, Atlı, Engin, Yalçın, Yelda, İkbal Atlı, Emine, Eker, Damla, Karal, Yasemin, Gürkan, Hakan
Publicado 2021

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

por Zhuri, Drenushe, Gurkan, Hakan, Eker, Damla, Karal, Yasemin, Yalcintepe, Sinem, Atli, Engin, Demir, Selma, Atli, Emine Ikbal
Publicado 2022

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

por Yalçıntepe, Sinem, Özgüç Çömlek, Fatma, Gürkan, Hakan, Demir, Selma, Atlı, Emine İkbal, Atlı, Engin, Eker, Damla, Tütüncüler Kökenli, Filiz
Publicado 2021

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

por Yalcintepe, Sinem, Karal, Yasemin, Demir, Selma, Atli, Emine Ikbal, Atli, Engin, Eker, Damla, Mail, Cisem, Zhuri, Drenushe, Guler, Hazal Sezginer, Gurkan, Hakan
Publicado 2023

Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

por Baysal, Mehmet, Demir, Selma, Ümit, Elif G., Gürkan, Hakan, Baş, Volkan, Karaman Gülsaran, Sedanur, Demirci, Ufuk, Kırkızlar, Hakkı Onur, Demir, Ahmet Muzaffer
Publicado 2020

Electrocardiographic Associations Seen with Obstructive Sleep Apnea

por Shankar, Shyam, Gupta, Sushilkumar Satish, Rojas-Marte, Geurys, Demir, Selma, Saxena, Abhinav, Obiagwu, Chukwudi, Aggarwal, Nidhi, Rai, Anand Kumar, Kamholz, Stephan, Shetty, Vijay, Kupfer, Yizhak
Publicado 2019

The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies

por Atli, Emine Ikbal, Gurkan, Hakan, Atli, Engin, Kirkizlar, Hakki Onur, Yalcintepe, Sinem, Demir, Selma, Demirci, Ufuk, Eker, Damla, Mail, Cisem, Kalkan, Rasime, Demir, Ahmet Muzaffer
Publicado 2021

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

por Yalcintepe, Sinem, Gurkan, Hakan, Korkmaz, Fatma Nur, Demir, Selma, Atli, Engin, Eker, Damla, Guler, Hazal Sezginer, Zhuri, Drenusha, Atli, Emine Ikbal, Salt, Semra Ayturk, Sahin, Mustafa, Guldiken, Sibel
Publicado 2021

Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes

por YALÇINTEPE, Sinem, GÖRKER, Işık, DEMİR, Selma, ATLI, Emine İkbal, ATLI, Engin, TOZKIR, Hilmi, SÜT, Necdet, ÖZEN, Yasemin, EKER, Damla, MAİL, Çisem, GÜLER, Hazal SEZGİNER, ZHURI, Drenushe, GURKAN, Hakan
Publicado 2021

Results of a Quality Improvement Project Aimed at Eliminating Healthcare Waste by Changing Medical Resident Test Ordering Behavior

por Gupta, Sushilkumar Satish, Voleti, Radhika, Nyemba, Vimbai, Demir, Selma, Lamikanra, Olaoluwatomi, Musemwa, Nomsa, Saverimuthu, Angela, Agoro, Kamaldeen, Kalter, Robert D., Homel, Peter, Hecht, Melvyn, Wolf, Lawrence B., Chapnick, Edward K., Kantrowitz, Michael G., Kamholz, Stephan L.
Publicado 2017