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Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635

Prenatal diagnosis, 2021-01, Vol.41 (1), p.6-7

2021

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Is leucodystrophy really a feature of PIGT‐CDG?

Neuropathology and applied neurobiology, 2020-10, Vol.46 (6), p.615-616

2020

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Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients

Clinical genetics, 2020-11, Vol.98 (5), p.468-476

2020

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Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a

2023

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FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

Clinical genetics, 2019-09, Vol.96 (3), p.274-275

2019

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The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Muscle & nerve, 2019-01, Vol.59 (1), p.129-133

2019

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Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy

Clinical genetics, 2019-06, Vol.95 (6), p.736-738

2019

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Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review

The clinical respiratory journal, 2020-05, Vol.14 (5), p.422-429

2020

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Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

International journal of molecular sciences, 2020-12, Vol.21 (23), p.9187

2020

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Congenital Disorders of Glycosylation from a Neurological Perspective

Brain sciences, 2021-01, Vol.11 (1), p.88

2021

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Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

Frontiers in genetics, 2021-06, Vol.12, p.674722-674722

2021

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Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review

Genes, 2023-05, Vol.14 (6), p.1208

2023

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Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Genes, 2020-11, Vol.11 (11), p.1383

2020

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SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency

Journal of clinical medicine, 2023-02, Vol.12 (5), p.1708

2023

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Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Children (Basel), 2021-06, Vol.8 (7), p.532

2021

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Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4564

2020

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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.17-17, Article 17

2021

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The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2541-2550

2014

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Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT)

Genes, 2024-03, Vol.15 (3), p.340

2024

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Editorial: Inherited Protein Glycosylation Defects in Humans

Frontiers in genetics, 2022-03, Vol.13, p.851438-851438

2022

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The genetic basis of classical galactosaemia in Polish patients

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.1-239, Article 239

2021

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Implementation of the web‐based calculator estimating odds ratio of severe COVID‐19 for unvaccinated individuals in a country with high coronavirus‐related death toll

Allergy (Copenhagen), 2023-01, Vol.78 (1), p.311-314

2023

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Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

Frontiers in genetics, 2022-12, Vol.13, p.1019283-1019283

2022

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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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Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

Nutrients, 2024-03, Vol.16 (6), p.812

2024

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Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635

Is leucodystrophy really a feature of PIGT‐CDG?

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients

Clinical heterogeneity of polish patients with KAT6B–related disorder

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

Congenital Disorders of Glycosylation from a Neurological Perspective

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT)

Editorial: Inherited Protein Glycosylation Defects in Humans

The genetic basis of classical galactosaemia in Polish patients

Implementation of the web‐based calculator estimating odds ratio of severe COVID‐19 for unvaccinated individuals in a country with high coronavirus‐related death toll

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

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

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

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