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Kabuki Syndrome-Clinical Review with Molecular Aspects

Genes, 2021-03, Vol.12 (4), p.468

2021

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The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19

International journal of infectious diseases, 2022-03, Vol.116, p.151-153

2022

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The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Cellular and molecular life sciences : CMLS, 2022-06, Vol.79 (6), p.305-305, Article 305

2022

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Authors’ response to Dr Finsterer's comment “Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis” (THEIJID-D-22-00008)

International journal of infectious diseases, 2022-05, Vol.118, p.52-53

2022

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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.411-419

2021

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Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

European journal of medical genetics, 2018-03, Vol.61 (3), p.157-160

2018

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American journal of human genetics, 2016-07, Vol.99 (1), p.188-194

2016

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A novel KEL c.1414‐1G>T allele in a polish patient with anti‐Ku antibody

Transfusion (Philadelphia, Pa.), 2022-09, Vol.62 (9), p.E43-E44

2022

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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Clinical genetics, 2018-12, Vol.94 (6), p.581-585

2018

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Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-07, Vol.153B (5), p.1042-1051

2010

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Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency

European journal of pediatrics, 2014-12, Vol.173 (12), p.1639-1642

2014

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FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1899-n/a

2022

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Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

Diagnostics (Basel), 2021-02, Vol.11 (2), p.320

2021

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POLG gene mutation. Clinico-neuropathological study

Folia neuropathologica, 2020-01, Vol.58 (4), p.386-392

2020

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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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Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient

The Israel Medical Association journal, 2018-10, Vol.20 (10), p.653-655

2018

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Clinico-pathological correlation in case of BRAT1 mutation

Folia neuropathologica, 2018-01, Vol.56 (4), p.362-371

2018

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Spinal muscular atrophy: epidemiology and health burden in children — a Polish national healthcare database perspective before introduction of SMA-specific treatment

Neurologia i neurochirurgia polska, 2021-01, Vol.55 (5), p.479-484

2021

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Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

Respiratory physiology & neurobiology, 2015-04, Vol.209, p.124-132

2015

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Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach

Advances in experimental medicine and biology, 2015, Vol.837, p.1

2015

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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

BioMed research international, 2014-01, Vol.2014, p.424796-8

2014

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Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression

Advances in experimental medicine and biology, 2017, Vol.980, p.59-66

2017

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Mobile system for on-road measurements of air pollutants

Review of scientific instruments, 2010-04, Vol.81 (4), p.045104-045104-5

2010

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The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral

Psychiatria polska, 2016, Vol.50 (3), p.543-554

2016

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Kabuki Syndrome-Clinical Review with Molecular Aspects

The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Authors’ response to Dr Finsterer's comment “Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis” (THEIJID-D-22-00008)

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

A novel KEL c.1414‐1G>T allele in a polish patient with anti‐Ku antibody

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

POLG gene mutation. Clinico-neuropathological study

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

Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient

Clinico-pathological correlation in case of BRAT1 mutation

Spinal muscular atrophy: epidemiology and health burden in children — a Polish national healthcare database perspective before introduction of SMA-specific treatment

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression

Mobile system for on-road measurements of air pollutants

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral

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