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Human Mutation
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July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
Brain Communications
|
August 24, 2023
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort
Sintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, 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.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, 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.
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.
American Journal of Medical Genetics. Part A
|
November 9, 2022
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Agneta Nordenskjöld, Samara Arkani, 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.
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.
Page
of 6
Search research articles
Search
Showing results (21-30 of 54) with videos related to
Sort By:
Page
of 6
Human Mutation
|
July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
Brain Communications
|
August 24, 2023
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort
Sintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, 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.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, 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.
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.
American Journal of Medical Genetics. Part A
|
November 9, 2022
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Agneta Nordenskjöld, Samara Arkani, 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.
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.
Page
of 6