Martina Skopkova

Martina Skopkova

Biomedical Research Center Slovak Academy of Sciences - Bratislava / Slovakia
Engineering & Technology / Biomedical Engineering
AD Scientific Index ID: 4512878
Biomedicínske centrum SAV
person_outline Martina Skopkova's MOST POPULAR ARTICLES
1-) De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed Diabetologia 57, 480-484, 2014
2-) Novel insights into genetics and clinics of the HNF1A-MODY Endocr Regul 53 (2), 110-134, 2019
3-) EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO Human mutation 38 (4), 409-425, 2017
4-) Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements The Journal of Clinical Endocrinology & Metabolism 93 (6), 2255-2262, 2008
5-) Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome Physiol Res 67 (2), 331-337, 2018