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BMC Medical Genetics
|
March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
July 26, 2013
The role of Drosophila cytidine monophosphate-sialic acid synthetase in the nervous system
Rafique Islam, Michiko Nakamura, Hilary Scott, et al.
Clinical Genetics
|
May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series
Maxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Journal of Clinical Pathology
|
January 23, 2020
Application of 2016 WHO classification in the diagnosis of paediatric high-grade <i>MYC</i>-negative mature B-cell lymphoma with Burkitt-like morphological features
Lei Zhang, Laura E Brown, Laurel M Bowen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing
Lisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.
NPJ Genomic Medicine
|
April 9, 2026
Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort
Lisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.
European Journal of Medical Genetics
|
November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Elizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Clinical Genetics
|
June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
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Showing results (11-20 of 19) with videos related to
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This site can display upto 19 results.
BMC Medical Genetics
|
March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
July 26, 2013
The role of Drosophila cytidine monophosphate-sialic acid synthetase in the nervous system
Rafique Islam, Michiko Nakamura, Hilary Scott, et al.
Clinical Genetics
|
May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series
Maxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Journal of Clinical Pathology
|
January 23, 2020
Application of 2016 WHO classification in the diagnosis of paediatric high-grade <i>MYC</i>-negative mature B-cell lymphoma with Burkitt-like morphological features
Lei Zhang, Laura E Brown, Laurel M Bowen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing
Lisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.
NPJ Genomic Medicine
|
April 9, 2026
Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort
Lisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.
European Journal of Medical Genetics
|
November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Elizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Clinical Genetics
|
June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
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