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Developmental Period Medicine|September 4, 2014
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in childrenMagdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Beata Nowakowska, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive conditionMarta Unolt, Molka Kammoun, Beata Nowakowska, et al.Pediatric Neurology|June 26, 2016
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset EncephalopathiesPawel Gawlinski, Renata Posmyk, Tomasz Gambin, et al.Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|April 13, 2025
Cytogenomic and Clinicopathologic Comparison of MYC-Positive and MYC-Negative High-Grade B-Cell Lymphoma With 11q Aberration in the Context of Other Aggressive Lymphomas With MYC RearrangementBeata Grygalewicz, Lukasz M Szafron, Laura A Szafron, et al.Scientific Reports|May 22, 2015
Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an exampleKatarzyna Klonowska, Magdalena Ratajska, Karol Czubak, et al.Human Genetics|June 23, 2006
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocationsZhishuo Ou, Małgorzata Jarmuz, Steven P Sparagana, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 25, 2017
Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics SocietyPiotr Sieroszewski, Mirosław Wielgos, Stanislaw Radowicki, et al.Genes|May 28, 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish ExperienceAnna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, et al.Journal of Applied Genetics|December 4, 2013
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disabilityMagdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, et al.Genes|January 21, 2023
Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsNatalie Blagowidow, Beata Nowakowska, Erica Schindewolf, et al.Pageof 6