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1 . Academic Journal
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases
저자
by
Erdinc, Direnis
;
Macao, Bertil
;
Valenzuela, Sebastian
;
Lesko, Nicole
;
Naess, Karin
, et al.
소스
In
BBA - Molecular Basis of Disease
October 2023 1869(7)
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7 . Academic Journal
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
저자
by
Rosenhahn, Erik
;
O’Brien, Thomas J.
;
Zaki, Maha S.
;
Sorge, Ina
;
Wieczorek, Dagmar
, et al.
소스
In
The American Journal of Human Genetics
4 August 2022 109(8):1421-1435
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7 . Academic Journal
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain
저자
by
Naess, Karin
;
Bruhn, Helene
;
Stranneheim, Henrik
;
Freyer, Christoph
;
Wibom, Rolf
, et al.
소스
In
The Journal of Pediatrics
January 2021 228:240-251
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7 . Academic Journal
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
저자
by
Bruhn, Helene
;
Naess, Karin
;
Ygberg, Sofia
;
Peña-Pérez, Lucía
;
Lesko, Nicole
, et al.
소스
Human Mutation; 3/25/2024, Vol. 2024, p1-16, 16p
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7 . Academic Journal
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion
저자
by
Lesko, Nicole
;
Naess, Karin
;
Wibom, Rolf
;
Solaroli, Nicola
;
Nennesmo, Inger
, et al.
소스
In
Neuromuscular Disorders
2010 20(3):198-203
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7 . Academic Journal
Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome
저자
by
Metodiev, Metodi D.
;
Lesko, Nicole
;
Park, Chan Bae
;
Cámara, Yolanda
;
Shi, Yonghong
, et al.
소스
In
Cell Metabolism
2009 9(4):386-397
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7 . Academic Journal
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
저자
by
Rasi, Chiara
;
Nilsson, Daniel
;
Magnusson, Måns
;
Lesko, Nicole
;
Lagerstedt‐Robinson, Kristina
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p708-716, 9p
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7 . Academic Journal
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
저자
by
Correia, Sandrina P.
;
Moedas, Marco F.
;
Naess, Karin
;
Bruhn, Helene
;
Maffezzini, Camilla
, et al.
소스
Human Mutation; Apr2021, Vol. 42 Issue 4, p378-384, 7p
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7 . Academic Journal
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
저자
by
Engvall, Martin
;
Kawasaki, Aki
;
Carelli, Valerio
;
Wibom, Rolf
;
Bruhn, Helene
, et al.
소스
Frontiers in Neurology; 3/25/2021, Vol. 11, pN.PAG-N.PAG, 6p
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7 . Academic Journal
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
저자
by
Stranneheim, Henrik
;
Lagerstedt-Robinson, Kristina
;
Magnusson, Måns
;
Kvarnung, Malin
;
Nilsson, Daniel
, et al.
소스
Genome Medicine
. 3/17/2021, Vol. 13 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
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