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Ayberk Turkyilmaz

Showing results (1-10 of 39) with videos related to

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Molecular Syndromology|January 29, 2021
A Novel <i>ELP2</i> Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current LiteratureAyberk Turkyilmaz, Gunes Sager
Endocrine|March 14, 2021
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1bAyse Ozden, Hakan Doneray, Ayberk Turkyilmaz
Molecular Syndromology|August 9, 2024
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest PatientMustafa Yılmaz, Ogun Bebek, Ayberk Turkyilmaz
Molecular Syndromology|August 23, 2021
First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and MicrocephalyAyberk Turkyilmaz, Erdal Kurnaz, Atilla Cayir
The Eurasian Journal of Medicine|January 19, 2023
Genetic Forms of Calciopenic RicketsAyse Sena Donmez, Ayberk Turkyilmaz, Atilla Cayir
The Eurasian Journal of Medicine|January 19, 2023
A Genetic Approach in the Evaluation of Short StatureAyberk Turkyilmaz, Ayse Sena Donmez, Atilla Cayir
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 20, 2025
Coexistence of <i>SRY, DHX37</i> and <i>POR</i> gene variants in a patient with 46,XY disorder of sex developmentAyse Ozden, Hakan Doneray, Ayberk Turkyilmaz, et al.
Seizure|November 29, 2024
Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathyOmar Alomarı, Ogun Bebek, Ayberk Turkyilmaz, et al.
Acta Neurologica Belgica|April 4, 2021
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegiesGunes Sager, Ayberk Turkyilmaz, Esra Arslan Ates, et al.
Clinical Genetics|October 10, 2024
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3Ayberk Turkyilmaz, Kubra Adanur Saglam, Mustafa Yilmaz, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Molecular Syndromology|January 29, 2021
A Novel <i>ELP2</i> Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current LiteratureAyberk Turkyilmaz, Gunes Sager
Endocrine|March 14, 2021
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1bAyse Ozden, Hakan Doneray, Ayberk Turkyilmaz
Molecular Syndromology|August 9, 2024
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest PatientMustafa Yılmaz, Ogun Bebek, Ayberk Turkyilmaz
Molecular Syndromology|August 23, 2021
First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and MicrocephalyAyberk Turkyilmaz, Erdal Kurnaz, Atilla Cayir
The Eurasian Journal of Medicine|January 19, 2023
Genetic Forms of Calciopenic RicketsAyse Sena Donmez, Ayberk Turkyilmaz, Atilla Cayir
The Eurasian Journal of Medicine|January 19, 2023
A Genetic Approach in the Evaluation of Short StatureAyberk Turkyilmaz, Ayse Sena Donmez, Atilla Cayir
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 20, 2025
Coexistence of <i>SRY, DHX37</i> and <i>POR</i> gene variants in a patient with 46,XY disorder of sex developmentAyse Ozden, Hakan Doneray, Ayberk Turkyilmaz, et al.
Seizure|November 29, 2024
Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathyOmar Alomarı, Ogun Bebek, Ayberk Turkyilmaz, et al.
Acta Neurologica Belgica|April 4, 2021
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegiesGunes Sager, Ayberk Turkyilmaz, Esra Arslan Ates, et al.
Clinical Genetics|October 10, 2024
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3Ayberk Turkyilmaz, Kubra Adanur Saglam, Mustafa Yilmaz, et al.
Pageof 4