A5050971845- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Microtubule and mitosis dynamics
- Congenital heart defects research
- RNA Research and Splicing
- Diet and metabolism studies
- Biomedical Ethics and Regulation
- Telomeres, Telomerase, and Senescence
- Iron Metabolism and Disorders
- Genetics, Bioinformatics, and Biomedical Research
- Erythrocyte Function and Pathophysiology
- Fetal and Pediatric Neurological Disorders
- Autism Spectrum Disorder Research
- Connexins and lens biology
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Hemoglobinopathies and Related Disorders
- Mitochondrial Function and Pathology
Centogene (Germany)
2018-2021
University of Social Welfare and Rehabilitation Sciences
2003-2012
Max Planck Institute for Molecular Genetics
2009-2012
α‐Thalassemia (thal) is one of the most common inherited hemoglobin (Hb) disorders worldwide. It caused by deletional or nondeletional mutations (α+) both (α0) genes in cis at α‐gl...
Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential components. Dyskeratosis congenita (DC) is rare, multisystemic biology disorder abnormal skin pigmentation, oral leukoplakia nail dysplasia along with various somatic findings. Hoyeraal-Hreidarsson syndrome (HHS) generally an autosomal recessively inherited subgroup showing growth retardation,...