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Ali Dursun

Showing results (61-70 of 88) with videos related to

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Journal of Inherited Metabolic Disease|February 1, 2019
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defectDilek Yalnızoǧlu, R Köksal Özgül, Kader K Oǧuz, et al.
The Turkish Journal of Pediatrics|November 5, 2021
COVID-19-related anxiety in phenylketonuria patientsHalil Tuna Akar, Yamaç Karaboncuk, Kısmet Çıkı, et al.
Gene|April 2, 2013
Molecular and clinical evaluation of Turkish patients with lysinuric protein intoleranceAyşegül Güzel-Ozantürk, Rıza Köksal Ozgül, Ozlem Unal, et al.
European Journal of Pediatrics|March 11, 2015
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screeningMehmet Karaca, Rıza Köksal Özgül, Özlem Ünal, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 23, 2026
Hypertrophic cardiomyopathy as a novel phenotypic feature of <i>NSUN3</i>-related mitochondrial disease: a case report with review of the literatureAyşe Şenol Ersak, Tuğçe Çağıran, Ayşen Koçyiğit, et al.
Clinical Dysmorphology|November 18, 2008
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvementAli Dursun, R Koksal Ozgul, Asli Soydas, et al.
European Journal of Medical Genetics|September 16, 2014
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemiaRıza Koksal Ozgul, Mehmet Karaca, Mustafa Kilic, et al.
The Turkish Journal of Pediatrics|August 1, 2019
Cognitive and behavioral impairment in mild hyperphenylalaninemiaS Gülin Evinç, Emine Pektaş, Dilşad Foto-Özdemir, et al.
American Journal of Medical Genetics. Part A|May 6, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, et al.
Clinical Genetics|May 20, 2021
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblingsYılmaz Yıldız, Can Koşukcu, Damla Aygün, et al.
Pageof 9

Showing results (61-70 of 88) with videos related to

Sort By:
Pageof 9
Journal of Inherited Metabolic Disease|February 1, 2019
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defectDilek Yalnızoǧlu, R Köksal Özgül, Kader K Oǧuz, et al.
The Turkish Journal of Pediatrics|November 5, 2021
COVID-19-related anxiety in phenylketonuria patientsHalil Tuna Akar, Yamaç Karaboncuk, Kısmet Çıkı, et al.
Gene|April 2, 2013
Molecular and clinical evaluation of Turkish patients with lysinuric protein intoleranceAyşegül Güzel-Ozantürk, Rıza Köksal Ozgül, Ozlem Unal, et al.
European Journal of Pediatrics|March 11, 2015
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screeningMehmet Karaca, Rıza Köksal Özgül, Özlem Ünal, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 23, 2026
Hypertrophic cardiomyopathy as a novel phenotypic feature of <i>NSUN3</i>-related mitochondrial disease: a case report with review of the literatureAyşe Şenol Ersak, Tuğçe Çağıran, Ayşen Koçyiğit, et al.
Clinical Dysmorphology|November 18, 2008
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvementAli Dursun, R Koksal Ozgul, Asli Soydas, et al.
European Journal of Medical Genetics|September 16, 2014
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemiaRıza Koksal Ozgul, Mehmet Karaca, Mustafa Kilic, et al.
The Turkish Journal of Pediatrics|August 1, 2019
Cognitive and behavioral impairment in mild hyperphenylalaninemiaS Gülin Evinç, Emine Pektaş, Dilşad Foto-Özdemir, et al.
American Journal of Medical Genetics. Part A|May 6, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, et al.
Clinical Genetics|May 20, 2021
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblingsYılmaz Yıldız, Can Koşukcu, Damla Aygün, et al.
Pageof 9