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Can Pre-Pregnancy Body Mass Index and Maternal Exercise Affect Birth and Neonatal Outcomes-A Cross Sectional Study

Nutrients, 2023-11, Vol.15 (23), p.4894

2023

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SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-325, Article 325

2022

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Development and validation of a method for the simultaneous analysis of fatty acid ethyl esters, ethyl sulfate and ethyl glucuronide in neonatal meconium: application in two cases of alcohol consumption during pregnancy

Analytical and bioanalytical chemistry, 2021-05, Vol.413 (11), p.3093-3105

2021

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Nutritional Issues among Children with Duchenne Muscular Dystrophy-Incidence of Deficiency and Excess Body Mass

Nutrients, 2024-07, Vol.16 (13), p.2143

2024

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807

2019

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Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BMC medical genetics, 2019-01, Vol.20 (1), p.1-1, Article 1

2019

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The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9459

2023

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Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation

Stem cell research, 2024-04, Vol.76, p.103327-103327, Article 103327

2024

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Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

Frontiers in pediatrics, 2019-05, Vol.7, p.203-203

2019

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Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters

Nutrients, 2022-06, Vol.14 (12), p.2390

2022

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High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

PloS one, 2017-11, Vol.12 (11), p.e0187365-e0187365

2017

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Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae

Children (Basel), 2023-09, Vol.10 (10), p.1599

2023

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Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

Journal of applied genetics, 2022-09, Vol.63 (3), p.535-542

2022

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Cell death discovery, 2021-02, Vol.7 (1), p.34-34, Article 34

2021

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Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland

Biomedicines, 2023-06, Vol.11 (6), p.1668

2023

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Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy

Medicina (Kaunas, Lithuania), 2020-08, Vol.56 (9), p.426

2020

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Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study

Nutrition & metabolism, 2017-08, Vol.14 (1), p.57-57, Article 57

2017

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Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2310-2316

2014

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Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

Frontiers in genetics, 2018-07, Vol.9, p.255-255

2018

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Contributors to Preterm Birth: Data from a Single Polish Perinatal Center

Children (Basel), 2023-02, Vol.10 (3), p.447

2023

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Journal of applied genetics, 2021-09, Vol.62 (3), p.477-485

2021

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Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1356-n/a

2020

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Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

Children (Basel), 2021-02, Vol.8 (2), p.138

2021

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Universal Health Coverage “Leave No Child Behind”

Pediatria polska, 2021, Vol.96 (1), p.1-6

2021

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Can Pre-Pregnancy Body Mass Index and Maternal Exercise Affect Birth and Neonatal Outcomes-A Cross Sectional Study

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Development and validation of a method for the simultaneous analysis of fatty acid ethyl esters, ethyl sulfate and ethyl glucuronide in neonatal meconium: application in two cases of alcohol consumption during pregnancy

Nutritional Issues among Children with Duchenne Muscular Dystrophy-Incidence of Deficiency and Excess Body Mass

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology

Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland

Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy

Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

Contributors to Preterm Birth: Data from a Single Polish Perinatal Center

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

Universal Health Coverage “Leave No Child Behind”

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