M. Skopkova

发表

Clinical implications of the glucokinase impaired function - GCK MODY today.

J. Hulin, M. Skopkova, T. Valkovicova, 2020, Physiological research.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

M. Skopkova, D. Gašperíková, J. Stanik, 2016, European journal of medical genetics.

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

M. Skopkova, D. Gašperíková, D. Danis, 2019, BMC Medical Genetics.

Novel insights into genetics and clinics of the HNF1A-MODY

M. Skopkova, T. Valkovicova, D. Gašperíková, 2019, Endocrine regulations.

Protein Array Reveals Differentially Expressed Proteins in Subcutaneous Adipose Tissue in Obesity

M. Skopkova, D. Gašperíková, I. Klimeš, 2007, Obesity.

EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2017, Human mutation.

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

M. Skopkova, D. Gašperíková, M. Karhanek, 2021, Scientific Reports.

Body composition, food intake, cardirespiratory fitness, blood lipids and psychological development in highly active and inactive preschool children.

M. Skopkova, J. Macková, J. Pařízková, 1986, Human biology.

Mitochondria and mitochondrial disorders: an overview update

M. Skopkova, D. Gašperíková, Dominika Hromníková, 2022, Endocrine regulations.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Physiological research.

Sulfonylurea vs insulin therapy in individuals with sulfonylurea‐sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Diabetic medicine : a journal of the British Diabetic Association.

Melanocortin-4 receptor gene mutations in obese Slovak children.

M. Skopkova, D. Gašperíková, J. Stanik, 2015, Physiological research.

Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

M. Skopkova, D. Gašperíková, D. Danis, 2020, International journal of pediatric otorhinolaryngology.

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

M. Skopkova, D. Gašperíková, J. Stanik, 2017, PloS one.

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

M. Skopkova, D. Gašperíková, P. Seeman, 2020, Orphanet Journal of Rare Diseases.

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

M. Skopkova, D. Gašperíková, P. Jungová, 2019, Journal of Molecular Neuroscience.

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

M. Skopkova, D. Gašperíková, P. Jungová, 2019, Journal of Molecular Neuroscience.

Immunologic phenotype of a child with the MEHMO syndrome.

M. Skopkova, D. Gašperíková, J. Stanik, 2020, Physiological research.

Diabetes treatment in two pregnant women with permanent neonatal diabetes mellitus due to a KCNJ11 mutation

M. Skopkova, T. Valkovicova, D. Gašperíková, 2020, Diabetic medicine : a journal of the British Diabetic Association.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

M. Skopkova, M. Rosoľanková, D. Gašperíková, 2017, Diabetes research and clinical practice.

Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants

M. Skopkova, T. Valkovicova, D. Gašperíková, 2020, Endocrine regulations.

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

M. Skopkova, D. Gašperíková, J. Stanik, 2014, Diabetologia.

Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors

M. Skopkova, D. Gašperíková, J. Stanik, 2023, Scientific reports.

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Endocrine regulations.

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

M. Skopkova, D. Gašperíková, J. Stanik, 2021, BMC Pediatrics.

Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements.

M. Skopkova, D. Gašperíková, M. Tajtáková, 2008, The Journal of clinical endocrinology and metabolism.

DNM1 encephalopathy − atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Seizure.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2018, Yearbook of Paediatric Endocrinology.

Derangements Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Adipokine Protein Expression Pattern in Growth Hormone Deficiency

M. Skopkova, D. Gašperíková, M. Tajtáková, 2008 .