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Serdar Ceylaner

Showing results (121-130 of 244) with videos related to

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Hormones (Athens, Greece)|October 30, 2020
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature reviewEdip Unal, Meliha Demiral, Ruken Yıldırım, et al.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|August 26, 2015
Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual AssociationFatih Mehmet Kislal, Nilgun Altuntas, Osman Ozdemir, et al.
Brain & Development|September 20, 2016
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresisYavuz Sahin, Olcay Güngör, Akif Ayaz, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 20, 2023
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotoniaArman Çakar, Emre Pekbilir, Serdar Ceylaner, et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-Arab Association of Gastroenterology|November 17, 2022
Chronic enteropathy associated with SLCO2A1 gene and hereditary fructose intolerance: A coincidence of two rare diseasesUtku Dönger, Khaled Warasnhe, Figen Özçay, et al.
Clinical Rheumatology|January 22, 2025
Two siblings with monogenic lupus due to C1qC deficiency and case based reviewElif Arslanoglu Aydin, Serdar Ceylaner, Esra Baglan, et al.
Molecular Syndromology|April 14, 2022
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine TreatmentMerve Koç Yekedüz, Neslihan Doğulu, Ümmühan Öncül, et al.
Journal of Clinical Research in Pediatric Endocrinology|November 30, 2019
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> GeneMeliha Demiral, Hüseyin Demirbilek, Edip Unal, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 16, 2025
Understanding rickets in osteopetrosis via a case: mechanisms and treatment implicationsMeliha Esra Bilici, Zeynep Şıklar, Elif Özsu, et al.
Molecular Syndromology|August 12, 2024
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?Çiğdem Seher Kasapkara, Oya Kıreker Köylü, Ayşenur Engin Erdal, et al.
Pageof 25

Showing results (121-130 of 244) with videos related to

Sort By:
Pageof 25
Hormones (Athens, Greece)|October 30, 2020
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature reviewEdip Unal, Meliha Demiral, Ruken Yıldırım, et al.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|August 26, 2015
Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual AssociationFatih Mehmet Kislal, Nilgun Altuntas, Osman Ozdemir, et al.
Brain & Development|September 20, 2016
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresisYavuz Sahin, Olcay Güngör, Akif Ayaz, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 20, 2023
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotoniaArman Çakar, Emre Pekbilir, Serdar Ceylaner, et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-Arab Association of Gastroenterology|November 17, 2022
Chronic enteropathy associated with SLCO2A1 gene and hereditary fructose intolerance: A coincidence of two rare diseasesUtku Dönger, Khaled Warasnhe, Figen Özçay, et al.
Clinical Rheumatology|January 22, 2025
Two siblings with monogenic lupus due to C1qC deficiency and case based reviewElif Arslanoglu Aydin, Serdar Ceylaner, Esra Baglan, et al.
Molecular Syndromology|April 14, 2022
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine TreatmentMerve Koç Yekedüz, Neslihan Doğulu, Ümmühan Öncül, et al.
Journal of Clinical Research in Pediatric Endocrinology|November 30, 2019
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> GeneMeliha Demiral, Hüseyin Demirbilek, Edip Unal, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 16, 2025
Understanding rickets in osteopetrosis via a case: mechanisms and treatment implicationsMeliha Esra Bilici, Zeynep Şıklar, Elif Özsu, et al.
Molecular Syndromology|August 12, 2024
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?Çiğdem Seher Kasapkara, Oya Kıreker Köylü, Ayşenur Engin Erdal, et al.
Pageof 25