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American Journal of Medical Genetics. Part A
|
October 8, 2014
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
Susan Zeesman, Elizabeth McCready, Bekim Sadikovic, et al.
International Journal of Molecular Sciences
|
December 9, 2020
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, et al.
British Journal of Haematology
|
March 6, 2019
Genomic data in prognostic models-what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia
Benjamin Chin-Yee, Bekim Sadikovic, Ian H Chin-Yee
Mitochondrion
|
February 7, 2018
Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation
Lauren Brady, Bekim Sadikovic, C Anthony Rupar, et al.
JCO Oncology Practice
|
January 9, 2024
Finding Goldilocks: Choosing Wisely Together in Hematology/Oncology
Benjamin Chin-Yee, Jenny Ho, Bekim Sadikovic, et al.
Expert Review of Molecular Diagnostics
|
August 5, 2023
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, et al.
Canadian Liver Journal
|
August 22, 2022
Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant
Paul C Adams, Carolyn Horgan-Bell, Scott Walsh, et al.
Epigenomics
|
March 16, 2019
DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype
Bekim Sadikovic, Erfan Aref-Eshghi, Michael A Levy, et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Breast Cancer Research : BCR
|
June 26, 2004
Chemically induced DNA hypomethylation in breast carcinoma cells detected by the amplification of intermethylated sites
Bekim Sadikovic, Thomas R Haines, Darci T Butcher, et al.
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of 23
Search research articles
Search
Showing results (11-20 of 228) with videos related to
Sort By:
Page
of 23
American Journal of Medical Genetics. Part A
|
October 8, 2014
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
Susan Zeesman, Elizabeth McCready, Bekim Sadikovic, et al.
International Journal of Molecular Sciences
|
December 9, 2020
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, et al.
British Journal of Haematology
|
March 6, 2019
Genomic data in prognostic models-what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia
Benjamin Chin-Yee, Bekim Sadikovic, Ian H Chin-Yee
Mitochondrion
|
February 7, 2018
Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation
Lauren Brady, Bekim Sadikovic, C Anthony Rupar, et al.
JCO Oncology Practice
|
January 9, 2024
Finding Goldilocks: Choosing Wisely Together in Hematology/Oncology
Benjamin Chin-Yee, Jenny Ho, Bekim Sadikovic, et al.
Expert Review of Molecular Diagnostics
|
August 5, 2023
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, et al.
Canadian Liver Journal
|
August 22, 2022
Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant
Paul C Adams, Carolyn Horgan-Bell, Scott Walsh, et al.
Epigenomics
|
March 16, 2019
DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype
Bekim Sadikovic, Erfan Aref-Eshghi, Michael A Levy, et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Breast Cancer Research : BCR
|
June 26, 2004
Chemically induced DNA hypomethylation in breast carcinoma cells detected by the amplification of intermethylated sites
Bekim Sadikovic, Thomas R Haines, Darci T Butcher, et al.
Page
of 23