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Daniel Nilsson

Showing results (151-160 of 178) with videos related to

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Plos One|September 24, 2016
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingAnna Kostareva, Artem Kiselev, Alexandra Gudkova, et al.
Frontiers in Genetics|October 15, 2019
Ataxia in Patients With Bi-Allelic <i>NFASC</i> Mutations and Absence of Full-Length NF186Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, et al.
The Journal of Craniofacial Surgery|February 2, 2026
Current Management of Craniosynostosis: A Nordic Pediatric Neurosurgery Network StudyKasper Amund Henriksen, Ulrikke Wiig, Daniel Nilsson, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, et al.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.
Nature|February 1, 2019
FOXK1 and FOXK2 regulate aerobic glycolysisValentina Sukonina, Haixia Ma, Wei Zhang, et al.
Pageof 18

Showing results (151-160 of 178) with videos related to

Sort By:
Pageof 18
Plos One|September 24, 2016
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingAnna Kostareva, Artem Kiselev, Alexandra Gudkova, et al.
Frontiers in Genetics|October 15, 2019
Ataxia in Patients With Bi-Allelic <i>NFASC</i> Mutations and Absence of Full-Length NF186Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, et al.
The Journal of Craniofacial Surgery|February 2, 2026
Current Management of Craniosynostosis: A Nordic Pediatric Neurosurgery Network StudyKasper Amund Henriksen, Ulrikke Wiig, Daniel Nilsson, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, et al.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.
Nature|February 1, 2019
FOXK1 and FOXK2 regulate aerobic glycolysisValentina Sukonina, Haixia Ma, Wei Zhang, et al.
Pageof 18