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DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Genetics in medicine, 2021-01, Vol.23 (1), p.149-154

2021

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Genetics in medicine, 2021-01, Vol.23 (1), p.237-237

2021

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Human genetics, 2006-09, Vol.120 (2), p.171-178

2006

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.337-342

2008

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From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages

The journal of maternal-fetal & neonatal medicine, 2024-12, Vol.37 (1), p.2364249

2024

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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

BMC pediatrics, 2010-12, Vol.10 (1), p.88-88, Article 88

2010

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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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The genetic basis of DOORS syndrome: an exome-sequencing study

Lancet neurology, 2014, Vol.13 (1), p.44-58

2014

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Long-term changes in the phytoplankton of Lake Charzykowskie

Oceanological and hydrobiological studies, 2012-09, Vol.41 (3), p.90-98

2012

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Human genetics, 2006-09, Vol.120 (2), p.171-178

2006

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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Genes, 2021-12, Vol.12 (12), p.2014

2021

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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.327-332

2014

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Phytoplankton dynamics in the reservoir lake "Żur" on the pomeranian Wda River

Oceanological and hydrobiological studies, 2010-12, Vol.39 (4), p.155-169

Wiśniewska, Marzena

2010

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A new case of DOOR syndrome

Journal of applied genetics, 2008-01, Vol.49 (1), p.101-103

2008

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Trisomy 8 mosaicism syndrome

Journal of applied genetics, 2002, Vol.43 (1), p.115-118

2002

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A familial X/Y translocation: cytogenetic and molecular study

Journal of applied genetics, 2001, Vol.42 (2), p.237-240

2001

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Molecular theory of ultramicro clusters and nucleation. i. the surface free energy

Nucleation and Atmospheric Aerosols 1996, 1996, p.212-215

1996

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Transferrin-Bound Doxorubicin Enhances Apoptosis and DNA Damage through the Generation of Pro-Inflammatory Responses in Human Leukemia Cells

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9390

2020

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The reduction of ruthenium(III) complexes with triazolopyrimidine ligands by ascorbic acid and mechanistic insight into their action in anticancer therapy

Inorganica Chimica Acta, 2019-01, Vol.484, p.305-310

2019

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Injury of the Hyoid Bone as a Rare Complication in Cervical Spine Rehabilitation: A Case Report

Ear, nose, & throat journal, 2024-03, p.1455613241234302-1455613241234302

2024

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Synthesis, structure and biological evaluation of ruthenium(III) complexes of triazolopyrimidines with anticancer properties

Journal of biological inorganic chemistry, 2020-02, Vol.25 (1), p.109-124

2020

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Nanoencapsulation of a ruthenium() complex with triazolopyrimidine in liposomes as a tool for improving its anticancer activity against melanoma cell lines

Dalton transactions : an international journal of inorganic chemistry, 2020-01, Vol.49 (4), p.127-1219

2020

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IL17A and IL17F genes polymorphisms are associated with histopathological changes in transplanted kidney

BMC nephrology, 2019-04, Vol.20 (1), p.124-124, Article 124

2019

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New organometallic ruthenium() complexes with purine analogs - a wide perspective on their biological application

Dalton transactions : an international journal of inorganic chemistry, 2021-04, Vol.5 (16), p.5557-5573

2021

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Chromosome deletions in 13q33-34: Report of four patients and review of the literature

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

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

The genetic basis of DOORS syndrome: an exome-sequencing study

Long-term changes in the phytoplankton of Lake Charzykowskie

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

Phytoplankton dynamics in the reservoir lake "Żur" on the pomeranian Wda River

A new case of DOOR syndrome

Trisomy 8 mosaicism syndrome

A familial X/Y translocation: cytogenetic and molecular study

Molecular theory of ultramicro clusters and nucleation. i. the surface free energy

Transferrin-Bound Doxorubicin Enhances Apoptosis and DNA Damage through the Generation of Pro-Inflammatory Responses in Human Leukemia Cells

The reduction of ruthenium(III) complexes with triazolopyrimidine ligands by ascorbic acid and mechanistic insight into their action in anticancer therapy

Injury of the Hyoid Bone as a Rare Complication in Cervical Spine Rehabilitation: A Case Report

Synthesis, structure and biological evaluation of ruthenium(III) complexes of triazolopyrimidines with anticancer properties

Nanoencapsulation of a ruthenium() complex with triazolopyrimidine in liposomes as a tool for improving its anticancer activity against melanoma cell lines

IL17A and IL17F genes polymorphisms are associated with histopathological changes in transplanted kidney

New organometallic ruthenium() complexes with purine analogs - a wide perspective on their biological application

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