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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1772-n/a

2021

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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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Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1102-1105

2011

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Complex glycerol kinase deficiency - long-term follow-up of two patients

Pediatric endocrinology, diabetes, and metabolism, 2021, Vol.27 (3), p.227-231

2021

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Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Birth defects research. A Clinical and molecular teratology, 2016-04, Vol.106 (4), p.304-307

2016

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Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Journal of applied genetics, 2015-05, Vol.56 (2), p.199-204

2015

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Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Birth defects research. A Clinical and molecular teratology, 2014-04, Vol.100 (4), p.314-318

2014

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Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 2020-01, Vol.29 (1), p.101-106

2020

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Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.447-452

2010

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Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland

Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 2014-07, Vol.23 (4), p.517-521

2014

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Heterogenność kliniczna i genetyczna dyzostoz twarzowych

Pediatria polska, 2015-01, Vol.90 (1), p.1-12

2015

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Heterogenność kliniczna i genetyczna dyzostoz twarzowych

Pediatria polska, 2015-01, Vol.90 (1), p.1-12

2015

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Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

Pediatric endocrinology, diabetes, and metabolism, 2012, Vol.18 (4), p.153

2012

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Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Ginekologia polska, 2015-09, Vol.86 (9), p.694-699

2015

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Rapid diagnostics of the most frequent fetal aneuploidies with QF-PCR method – study of 100 cases

Ginekologia polska, 2015, Vol.86 (9), p.694-699

2015

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Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports

Polish journal of radiology, 2010-01, Vol.75 (2), p.94-97

2010

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Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data

Medycyna wieku rozwojowego, 2012-04, Vol.16 (2), p.138

2012

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Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

Medycyna wieku rozwojowego, 2011-04, Vol.15 (2), p.132

2011

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Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports

Polish journal of radiology, 2010, Vol.75 (2), p.94-97

2010

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Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

American Journal of Medical Genetics Part A, 2011, Vol.155A (5), p.1102-1105

2011

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Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

American Journal of Medical Genetics Part A, 2010, Vol.152A (2), p.447-452

2010

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Mental health prevalence and predictors among university students in nine countries during the COVID-19 pandemic: a cross-national study

Scientific reports, 2021-09, Vol.11 (1), p.18644-18644, Article 18644

2021

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Compositional and pressure effects on the solubility of H2O and CO2 in mafic melts

Chemical geology, 2014-11, Vol.388, p.112-129

2014

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Changes in mental health during three waves of the COVID-19 pandemic: a repeated cross-sectional study among polish university students

BMC psychiatry, 2021-12, Vol.21 (1), p.627-15, Article 627

2021

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The effect of western diet on mice brain lipid composition

Nutrition & metabolism, 2019-11, Vol.16 (1), p.81-81, Article 81

2019

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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

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

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Complex glycerol kinase deficiency - long-term follow-up of two patients

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland

Heterogenność kliniczna i genetyczna dyzostoz twarzowych

Heterogenność kliniczna i genetyczna dyzostoz twarzowych

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Rapid diagnostics of the most frequent fetal aneuploidies with QF-PCR method – study of 100 cases

Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports

Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data

Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Mental health prevalence and predictors among university students in nine countries during the COVID-19 pandemic: a cross-national study

Compositional and pressure effects on the solubility of H2O and CO2 in mafic melts

Changes in mental health during three waves of the COVID-19 pandemic: a repeated cross-sectional study among polish university students

The effect of western diet on mice brain lipid composition

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