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Search Results - Avcı‐Durmuşalioğlu, Enise
Search Results - Avcı‐Durmuşalioğlu, Enise
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Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith– McCort dysplasia type 2
by
Akalın, Akçahan
,
Ayaz, Ercan
,
Soğukpınar, Merve
,
Avcı‐Durmuşalioğlu, Enise
,
Ürel‐Demir, Gizem
,
Yıldız, Adalet Elçin
,
Atik, Tahir
,
Elcioglu, Nursel H.
,
Eda Utine, Gulen
,
Şimşek‐Kiper, Pelin Özlem
Published in
American journal of medical genetics. Part A
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The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era
by
Kanmaz, Seda
,
Yılmaz, Sanem
,
Olculu, Cemile Büşra
,
Toprak, Dilara Ece
,
Ince, Tuğçe
,
Yılmaz, Özlem
,
Atas, Yavuz
,
Sen, Gursel
,
Şimşek, Erdem
,
Serin, Hepsen Mine
,
Durmuşalioğlu, Enise Avcı
,
Işık, Esra
,
Atik, Tahir
,
Aktan, Gul
,
Cogulu, Ozgur
,
Gokben, Sarenur
,
Ozkınay, Ferda
,
Tekgul, Hasan
Published in
Pediatric neurology
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A Unique Case of Thrombophilia: The Role of F9 Gene Duplication and Increased FIX Activity in Cerebral Venous Thrombosis
by
Tan, Turkan Turkut
,
Parıltay, Erhan
,
Durmuşalioğlu, Enise Avcı
,
Işık, Esra
,
Çoğulu, Özgür
,
Kavakli, Kaan
,
Atik, Tahir
Published in
Journal of thrombosis and haemostasis
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The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review
by
Karamik, Gokcen
,
Tuysuz, Beyhan
,
Isik, Esra
,
Yilmaz, Aysegul
,
Alanay, Yasemin
,
Sunamak, Evrim Cifci
,
Durmusalioglu, Enise Avci
,
Ozkinay, Ferda
,
Cetin, Gokhan Ozan
,
Ozturk, Nuray
,
Mihci, Ercan
,
Nur, Banu
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Journal Of Thrombosis And Haemostasis
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Pediatric Neurology
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Genetics & Heredity
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Life Sciences & Biomedicine
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Science & Technology
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17Q21.31 Microdeletion Syndrome
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Celiac Disease
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Chromosome 17
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Epilepsy
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Genomic Era
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Hypothyroidism
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Infantile Epileptic Spasms Syndrome
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Kdvs
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Koolen-De Vries Syndrome
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Koolen‐De Vries Syndrome
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Literature Reviews
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Molecular Karyotyping
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Next-Generation Sequencing
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Phenotypes
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Polydactyly
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West Syndrome
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Whole Exome Sequencing
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Sciencedirect Freedom Collection 2022-2024
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