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Orhan Gorukmez

Showing results (1-10 of 23) with videos related to

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Molecular Syndromology|November 23, 2020
First Infertile Case with <i>CSTF2T</i>Gene MutationOzlem Gorukmez, Orhan Gorukmez
Journal of Pediatric Hematology/Oncology|February 8, 2020
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the LiteratureTugba Belgemen-Ozer, Orhan Gorukmez
Human Heredity|February 13, 2025
RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in TurkeyOrhan Gorukmez, Ozlem Gorukmez, Ali Topak
Fetal and Pediatric Pathology|March 13, 2020
A Novel Nonsense <i>FMN2</i> Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability SyndromeOrhan Gorukmez, Ozlem Gorukmez, Arzu Ekici
Fetal and Pediatric Pathology|June 20, 2019
Novel <i>PLVAP</i> Mutation in Protein Losing EnteropathyOrhan Gorukmez, Ozlem Gorukmez, Kaan Demiroren
Fetal and Pediatric Pathology|June 30, 2020
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3Derya Altay, Orhan Gorukmez, Duran Arslan
American Journal of Medical Genetics. Part A|March 25, 2023
Clinical exome sequencing findings in 1589 patientsOzlem Gorukmez, Orhan Gorukmez, Ali Topak
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 20, 2021
Newly defined peroxisomal disease with novel <i>ACBD5</i> mutationOzlem Gorukmez, Cengiz Havalı, Orhan Gorukmez, et al.
Fetal and Pediatric Pathology|February 1, 2020
A Novel Homozygous Mutation in <i>CYP11A1</i> Gene is Associated with Severe Adrenal Insufficiency in 46, XX PatientOzlem Kara, Orhan Gorukmez, Arzu Ekici, et al.
Fetal and Pediatric Pathology|September 22, 2023
ATP7B Gene Variant Profile İdentified by NGS in Wilson's DiseaseOrhan Gorukmez, Taner Özgür, Ozlem Gorukmez, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Molecular Syndromology|November 23, 2020
First Infertile Case with <i>CSTF2T</i>Gene MutationOzlem Gorukmez, Orhan Gorukmez
Journal of Pediatric Hematology/Oncology|February 8, 2020
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the LiteratureTugba Belgemen-Ozer, Orhan Gorukmez
Human Heredity|February 13, 2025
RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in TurkeyOrhan Gorukmez, Ozlem Gorukmez, Ali Topak
Fetal and Pediatric Pathology|March 13, 2020
A Novel Nonsense <i>FMN2</i> Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability SyndromeOrhan Gorukmez, Ozlem Gorukmez, Arzu Ekici
Fetal and Pediatric Pathology|June 20, 2019
Novel <i>PLVAP</i> Mutation in Protein Losing EnteropathyOrhan Gorukmez, Ozlem Gorukmez, Kaan Demiroren
Fetal and Pediatric Pathology|June 30, 2020
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3Derya Altay, Orhan Gorukmez, Duran Arslan
American Journal of Medical Genetics. Part A|March 25, 2023
Clinical exome sequencing findings in 1589 patientsOzlem Gorukmez, Orhan Gorukmez, Ali Topak
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 20, 2021
Newly defined peroxisomal disease with novel <i>ACBD5</i> mutationOzlem Gorukmez, Cengiz Havalı, Orhan Gorukmez, et al.
Fetal and Pediatric Pathology|February 1, 2020
A Novel Homozygous Mutation in <i>CYP11A1</i> Gene is Associated with Severe Adrenal Insufficiency in 46, XX PatientOzlem Kara, Orhan Gorukmez, Arzu Ekici, et al.
Fetal and Pediatric Pathology|September 22, 2023
ATP7B Gene Variant Profile İdentified by NGS in Wilson's DiseaseOrhan Gorukmez, Taner Özgür, Ozlem Gorukmez, et al.
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