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Ali Dursun

Showing results (51-60 of 88) with videos related to

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The Turkish Journal of Pediatrics|December 25, 2015
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age fourÖzlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, et al.
Journal of Human Genetics|August 9, 2013
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variationsRıza Köksal Özgül, Ayşegül Güzel-Ozantürk, Halil Dündar, et al.
Gene|November 12, 2013
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probandsMehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, et al.
Journal of Child Neurology|September 12, 2012
A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle BiopsyOzlem Unal, Diclehan Orhan, Elsebet Ostergaard, et al.
Atherosclerosis|April 13, 2005
The molecular basis of familial hypercholesterolaemia in Turkish patientsM Mert Sözen, Ros Whittall, Cihan Oner, et al.
Clinical Dysmorphology|August 23, 2016
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutationAli Dursun, Dilek Yalnizoglu, Omer F Gerdan, et al.
The Turkish Journal of Pediatrics|May 4, 2011
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndromeMustafa Kiliç, Hatice Serap Sivri, Ali Dursun, et al.
European Journal of Medical Genetics|February 21, 2024
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter studyEngin Köse, Çiğdem Seher Kasapkara, Aslı İnci, et al.
JIMD Reports|February 23, 2013
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.
Balkan Medical Journal|August 15, 2022
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsHalil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, et al.
Pageof 9

Showing results (51-60 of 88) with videos related to

Sort By:
Pageof 9
The Turkish Journal of Pediatrics|December 25, 2015
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age fourÖzlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, et al.
Journal of Human Genetics|August 9, 2013
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variationsRıza Köksal Özgül, Ayşegül Güzel-Ozantürk, Halil Dündar, et al.
Gene|November 12, 2013
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probandsMehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, et al.
Journal of Child Neurology|September 12, 2012
A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle BiopsyOzlem Unal, Diclehan Orhan, Elsebet Ostergaard, et al.
Atherosclerosis|April 13, 2005
The molecular basis of familial hypercholesterolaemia in Turkish patientsM Mert Sözen, Ros Whittall, Cihan Oner, et al.
Clinical Dysmorphology|August 23, 2016
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutationAli Dursun, Dilek Yalnizoglu, Omer F Gerdan, et al.
The Turkish Journal of Pediatrics|May 4, 2011
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndromeMustafa Kiliç, Hatice Serap Sivri, Ali Dursun, et al.
European Journal of Medical Genetics|February 21, 2024
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter studyEngin Köse, Çiğdem Seher Kasapkara, Aslı İnci, et al.
JIMD Reports|February 23, 2013
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.
Balkan Medical Journal|August 15, 2022
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsHalil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, et al.
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