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Genome Research
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October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Jesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
Scientific Reports
|
April 18, 2024
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Esmee Ten Berk de Boer, Adam Ameur, Ignas Bunikis, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2026
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 13, 2017
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Maria Pettersson, Heli Viljakainen, Petra Loid, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
June 14, 2024
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
Josephine Wincent, Hafdís T Helgadóttir, Fotios Sergouniotis, et al.
Biomedicines
|
December 23, 2022
A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy
Raquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Plos One
|
July 2, 2015
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Heli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, et al.
Frontiers in Endocrinology
|
July 26, 2018
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Alice Costantini, Sini Skarp, Anders Kämpe, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2010
Molecular and clinical characterization of patients with overlapping 10p deletions
Anna Lindstrand, Helena Malmgren, Annapia Verri, et al.
Molecular Genetics & Genomic Medicine
|
February 4, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, et al.
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of 13
Search research articles
Search
Showing results (41-50 of 127) with videos related to
Sort By:
Page
of 13
Genome Research
|
October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Jesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
Scientific Reports
|
April 18, 2024
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Esmee Ten Berk de Boer, Adam Ameur, Ignas Bunikis, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2026
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 13, 2017
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Maria Pettersson, Heli Viljakainen, Petra Loid, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
June 14, 2024
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
Josephine Wincent, Hafdís T Helgadóttir, Fotios Sergouniotis, et al.
Biomedicines
|
December 23, 2022
A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy
Raquel Vaz, Josephine Wincent, Najla Elfissi, et al.
Plos One
|
July 2, 2015
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Heli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, et al.
Frontiers in Endocrinology
|
July 26, 2018
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Alice Costantini, Sini Skarp, Anders Kämpe, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2010
Molecular and clinical characterization of patients with overlapping 10p deletions
Anna Lindstrand, Helena Malmgren, Annapia Verri, et al.
Molecular Genetics & Genomic Medicine
|
February 4, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, et al.
Page
of 13