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American Journal of Medical Genetics. Part A
|
May 3, 2023
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype
Katarzyna Polonis, Jaime L Lopes, Huong Cabral, et al.
Frontiers in Molecular Biosciences
|
March 3, 2020
Metabolomic Signature of Early Vascular Aging (EVA) in Hypertension
Katarzyna Polonis, Renata Wawrzyniak, Emilia Daghir-Wojtkowiak, et al.
Cells
|
April 28, 2019
Telomere Length and Risk of Major Adverse Cardiac Events and Cancer in Obstructive Sleep Apnea Patients
Katarzyna Polonis, Sreeja Sompalli, Christiane Becari, et al.
Clinical Genetics
|
October 22, 2024
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism
Fernando Zazueta Leon-Quintero, Kevin M Bowling, Alexa Dickson, et al.
The Journal of Molecular Diagnostics : JMD
|
July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine
Alexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
Cold Spring Harbor Molecular Case Studies
|
May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?
Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Current Medicinal Chemistry
|
October 10, 2017
Untargeted Metabolomics Provides Insight into the Mechanisms Underlying Resistant Hypertension
Renata Wawrzyniak, Arlette Yumba Mpanga, Wiktoria Struck-Lewicka, et al.
Annals of Diagnostic Pathology
|
May 15, 2020
Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing
Katarzyna Polonis, Matthew J Schultz, Horatiu Olteanu, et al.
JTO Clinical and Research Reports
|
December 30, 2024
Individualized Cell-Free DNA Monitoring With Chromosomal Junctions for Mesothelioma
Kaushal Parikh, Faye R Harris, Giannoula Karagouga, et al.
CJC Open
|
July 18, 2024
Assessing Machine Learning for Diagnostic Classification of Hypertension Types Identified by Ambulatory Blood Pressure Monitoring
Tran Quoc Bao Tran, Stefanie Lip, Clea du Toit, et al.
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Search research articles
Search
Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
May 3, 2023
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype
Katarzyna Polonis, Jaime L Lopes, Huong Cabral, et al.
Frontiers in Molecular Biosciences
|
March 3, 2020
Metabolomic Signature of Early Vascular Aging (EVA) in Hypertension
Katarzyna Polonis, Renata Wawrzyniak, Emilia Daghir-Wojtkowiak, et al.
Cells
|
April 28, 2019
Telomere Length and Risk of Major Adverse Cardiac Events and Cancer in Obstructive Sleep Apnea Patients
Katarzyna Polonis, Sreeja Sompalli, Christiane Becari, et al.
Clinical Genetics
|
October 22, 2024
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism
Fernando Zazueta Leon-Quintero, Kevin M Bowling, Alexa Dickson, et al.
The Journal of Molecular Diagnostics : JMD
|
July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine
Alexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
Cold Spring Harbor Molecular Case Studies
|
May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?
Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Current Medicinal Chemistry
|
October 10, 2017
Untargeted Metabolomics Provides Insight into the Mechanisms Underlying Resistant Hypertension
Renata Wawrzyniak, Arlette Yumba Mpanga, Wiktoria Struck-Lewicka, et al.
Annals of Diagnostic Pathology
|
May 15, 2020
Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing
Katarzyna Polonis, Matthew J Schultz, Horatiu Olteanu, et al.
JTO Clinical and Research Reports
|
December 30, 2024
Individualized Cell-Free DNA Monitoring With Chromosomal Junctions for Mesothelioma
Kaushal Parikh, Faye R Harris, Giannoula Karagouga, et al.
CJC Open
|
July 18, 2024
Assessing Machine Learning for Diagnostic Classification of Hypertension Types Identified by Ambulatory Blood Pressure Monitoring
Tran Quoc Bao Tran, Stefanie Lip, Clea du Toit, et al.
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of 3