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List of works by Agata Skórka

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

scientific article published on 23 April 2012

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

scientific article published on 09 September 2016

Acute hypoxic hepatopathy: diabetic ketoacidosis complication in an infant newly diagnosed with type 1 diabetes mellitus.

scientific article published in January 2008

Alginiany w leczeniu refluksu żołądkowo-przełykowego u dzieci: przegląd systematyczny badań z randomizacją

scientific article published in January 2015

Association between early life (prenatal and postnatal) antibiotic administration and coeliac disease: a systematic review

scientific article published on 25 May 2019

Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease

article

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

scientific article

Effects of prenatal and/or postnatal (maternal and/or child) folic acid supplementation on the mental performance of children.

scientific article

Effects of prenatal and/or postnatal supplementation with iron, PUFA or folic acid on neurodevelopment: update

scientific article

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Fermented infant formulas without live bacteria: a systematic review

scientific article published on 11 September 2015

Infant Formulas With Postbiotics: An Updated Systematic Review

scientific article published in 2022

Infant formulae supplemented with prebiotics: Are they better than unsupplemented formulae? An updated systematic review

scientific article published on 19 February 2018

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

scientific article published on 11 November 2014

Lactobacillus GG w leczeniu ostrej biegunki infekcyjnej u dzieci: aktualizacja metaanalizy badań z randomizacją

scientific article published in July 2008

Lipoatrophy associated with rapid-acting insulin analogues in young patients with type 1 diabetes mellitus

scientific article published on January 2008

Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset

scientific article published in June 2005

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

scientific article published on 01 November 2007

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

scientific article

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Memory of insulin pumps and their record as a source of information about insulin therapy in children and adolescents with type 1 diabetes

scientific article published in April 2005

No effect of proton pump inhibitors on crying and irritability in infants: systematic review of randomized controlled trials

scientific article published on 30 December 2014

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

scientific article published on 23 December 2016

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Post-zygotic diploidization of triploidy in human is possible? - a case of triploid partial molar pregnancy resulting in a premature live-born diploid female infant

scientific article published on 01 December 2019

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

scientific article published on 01 January 2020

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

scientific article published on 26 January 2016

Sustained metabolic control and low rates of severe hypoglycaemic episodes in preschool diabetic children treated with continuous subcutaneous insulin infusion

scientific article published on June 2007

Systematic review with meta-analysis: Lactobacillus rhamnosus GG for treating acute gastroenteritis in children - a 2019 update

scientific article published on 25 April 2019

The risk factors of ketoacidosis in children with newly diagnosed type 1 diabetes mellitus ⬇️

scientific article published on December 5, 2010

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