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The Application of Clinical Genetics
|
April 8, 2026
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
Mateusz Górecki, Ilona Jaszczuk, Monika Lejman
International Journal of Molecular Sciences
|
November 26, 2022
The Role of Cluster C19MC in Pre-Eclampsia Development
Ilona Jaszczuk, Izabela Winkler, Dorota Koczkodaj, et al.
BMC Medical Genomics
|
March 11, 2021
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Monika Szelest, Martyna Stefaniak, Gabriela Ręka, et al.
Molecular Cytogenetics
|
September 16, 2017
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, et al.
American Journal of Medical Genetics. Part A
|
February 3, 2016
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay
Marta Smyk, Anna Poluha, Ilona Jaszczuk, et al.
Annals of Medicine
|
May 11, 2022
The role of miRNA-210 in pre-eclampsia development
Ilona Jaszczuk, Dorota Koczkodaj, Adrianna Kondracka, et al.
Ginekologia Polska
|
April 12, 2023
Diagnostic potential of microRNAs Mi 517 and Mi 526 as biomarkers in the detection of hypertension and preeclampsia in the first trimester
Adrianna Kondracka, Bartosz Kondracki, Ilona Jaszczuk, et al.
Cancer Genetics and Cytogenetics
|
July 13, 2010
Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrangements detected by comparative genomic hybridization in childhood acute lymphoblastic leukemia
Jerzy R Kowalczyk, Mariusz Babicz, Anna Gaworczyk, et al.
International Journal of Environmental Research and Public Health
|
May 14, 2022
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis
Izabela Winkler, Ilona Jaszczuk, Marek Gogacz, et al.
Molecular Genetics and Metabolism
|
June 2, 2017
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks, et al.
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Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
The Application of Clinical Genetics
|
April 8, 2026
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
Mateusz Górecki, Ilona Jaszczuk, Monika Lejman
International Journal of Molecular Sciences
|
November 26, 2022
The Role of Cluster C19MC in Pre-Eclampsia Development
Ilona Jaszczuk, Izabela Winkler, Dorota Koczkodaj, et al.
BMC Medical Genomics
|
March 11, 2021
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Monika Szelest, Martyna Stefaniak, Gabriela Ręka, et al.
Molecular Cytogenetics
|
September 16, 2017
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, et al.
American Journal of Medical Genetics. Part A
|
February 3, 2016
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay
Marta Smyk, Anna Poluha, Ilona Jaszczuk, et al.
Annals of Medicine
|
May 11, 2022
The role of miRNA-210 in pre-eclampsia development
Ilona Jaszczuk, Dorota Koczkodaj, Adrianna Kondracka, et al.
Ginekologia Polska
|
April 12, 2023
Diagnostic potential of microRNAs Mi 517 and Mi 526 as biomarkers in the detection of hypertension and preeclampsia in the first trimester
Adrianna Kondracka, Bartosz Kondracki, Ilona Jaszczuk, et al.
Cancer Genetics and Cytogenetics
|
July 13, 2010
Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrangements detected by comparative genomic hybridization in childhood acute lymphoblastic leukemia
Jerzy R Kowalczyk, Mariusz Babicz, Anna Gaworczyk, et al.
International Journal of Environmental Research and Public Health
|
May 14, 2022
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis
Izabela Winkler, Ilona Jaszczuk, Marek Gogacz, et al.
Molecular Genetics and Metabolism
|
June 2, 2017
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks, et al.
Page
of 2