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European Journal of Human Genetics : EJHG
|
February 23, 2026
Flexible and rapid validation of structural variation using adaptive sampling
Aida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
Scientific Reports
|
December 5, 2024
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Marlene Ek, Malin Kvarnung, Maria Pettersson, et al.
Scientific Reports
|
April 27, 2023
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Hannes Runheim, Maria Pettersson, Anna Hammarsjö, et al.
Neurology. Genetics
|
January 22, 2025
Acute Vestibular Syndrome Unmasking an <i>RFC1</i>-Spectrum Disorder
Luca Verrecchia, Victor Alm, Håkan Thonberg, et al.
Human Mutation
|
February 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
Chiara Rasi, Daniel Nilsson, Måns Magnusson, et al.
Ophthalmic Genetics
|
May 29, 2023
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, et al.
International Journal of Cancer
|
May 14, 2026
Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, et al.
Frontiers in Genetics
|
February 21, 2022
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, et al.
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of 13
Search research articles
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Showing results (31-40 of 127) with videos related to
Sort By:
Page
of 13
European Journal of Human Genetics : EJHG
|
February 23, 2026
Flexible and rapid validation of structural variation using adaptive sampling
Aida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
Scientific Reports
|
December 5, 2024
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Marlene Ek, Malin Kvarnung, Maria Pettersson, et al.
Scientific Reports
|
April 27, 2023
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Hannes Runheim, Maria Pettersson, Anna Hammarsjö, et al.
Neurology. Genetics
|
January 22, 2025
Acute Vestibular Syndrome Unmasking an <i>RFC1</i>-Spectrum Disorder
Luca Verrecchia, Victor Alm, Håkan Thonberg, et al.
Human Mutation
|
February 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
Chiara Rasi, Daniel Nilsson, Måns Magnusson, et al.
Ophthalmic Genetics
|
May 29, 2023
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, et al.
International Journal of Cancer
|
May 14, 2026
Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, et al.
Frontiers in Genetics
|
February 21, 2022
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, et al.
Page
of 13