Esra Işık Selected Research

Nonsense Codon (Nonsense Mutation)

1/2021

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

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Esra Işık Research Topics

Disease

2	Hemorrhage 01/2020 - 01/2018
2	Hemophilia A (Haemophilia) 01/2020 - 01/2018
1	Type 2 Diabetes Mellitus (MODY) 06/2023
1	Mason-Type Diabetes 06/2023
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2021
1	Intellectual Disability (Idiocy) 01/2021
1	Obesity 01/2021
1	Morbid Obesity 01/2021
1	Acrocephalosyndactylia (Apert Syndrome) 12/2017

Drug/Important Bio-Agent (IBA)

2	Factor VIII (Coagulation Factor VIII)IBA 01/2020 - 01/2018
1	Insulin (Novolin)FDA Link 06/2023
1	CarboxypeptidasesIBA 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 12/2017

Therapy/Procedure

1	Therapeutics 06/2023