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Serdar Ceylaner

Showing results (131-140 of 244) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|February 22, 2017
Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndromeFatih Celmeli, Abdullah Kocabas, Ishak A Isik, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|September 3, 2025
Ketogenic Diet in Niemann-Pick Type C: Insights From a Case ReportBahar Kulu, Pelin Teke Kısa, Esra Er, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 28, 2014
A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at pubertyHale Unver Tuhan, Ahmet Anik, Gonul Catli, et al.
Mitochondrion|March 2, 2026
Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapyHacer Durmus, Asuman Gedikbaşı, Serdar Ceylaner, et al.
Acta Neurologica Belgica|November 28, 2019
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patientsGülen Gül Mert, Neslihan Özcan, Özlem Hergüner, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 26, 2017
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutationNursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 12, 2014
Three cases of Wolfram syndrome with different clinical aspectsEmine Çamtosun, Zeynep Şıklar, Pınar Kocaay, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversionAyse Gul Zamani, Aynur Acar, Gul Durakbasi-Dursun, et al.
Children (Basel, Switzerland)|October 29, 2025
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center ExperienceSeyda Besen, Yasemin Özkale, Murat Özkale, et al.
Hormone Research in Paediatrics|April 29, 2020
A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the LiteratureAslı Derya Kardelen Al, Şükran Poyrazoğlu, Ayça Aslanger, et al.
Pageof 25

Showing results (131-140 of 244) with videos related to

Sort By:
Pageof 25
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 22, 2017
Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndromeFatih Celmeli, Abdullah Kocabas, Ishak A Isik, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|September 3, 2025
Ketogenic Diet in Niemann-Pick Type C: Insights From a Case ReportBahar Kulu, Pelin Teke Kısa, Esra Er, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 28, 2014
A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at pubertyHale Unver Tuhan, Ahmet Anik, Gonul Catli, et al.
Mitochondrion|March 2, 2026
Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapyHacer Durmus, Asuman Gedikbaşı, Serdar Ceylaner, et al.
Acta Neurologica Belgica|November 28, 2019
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patientsGülen Gül Mert, Neslihan Özcan, Özlem Hergüner, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 26, 2017
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutationNursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 12, 2014
Three cases of Wolfram syndrome with different clinical aspectsEmine Çamtosun, Zeynep Şıklar, Pınar Kocaay, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversionAyse Gul Zamani, Aynur Acar, Gul Durakbasi-Dursun, et al.
Children (Basel, Switzerland)|October 29, 2025
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center ExperienceSeyda Besen, Yasemin Özkale, Murat Özkale, et al.
Hormone Research in Paediatrics|April 29, 2020
A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the LiteratureAslı Derya Kardelen Al, Şükran Poyrazoğlu, Ayça Aslanger, et al.
Pageof 25