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1 . Academic Journal
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing
저자
by
Josefin Johansson
;
Sarah Lidéus
;
Ida Höijer
;
Adam Ameur
;
Sanna Gudmundsson
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
저자
by
Ida Höijer
;
Josefin Johansson
;
Sanna Gudmundsson
;
Chen-Shan Chin
;
Ignas Bunikis
, et al.
소스
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
저자
by
K. Sigvard Olsson
;
Olof Wålinder
;
Ulf Jansson
;
Maria Wilbe
;
Marie-Louise Bondeson
, et al.
소스
Hereditas, Vol 154, Iss 1, Pp 1-11 (2017)
Open Access (BioMed Central)
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7 . Academic Journal
Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
저자
by
Maria Wilbe
;
Sergey V Kozyrev
;
Fabiana H G Farias
;
Hanna D Bremer
;
Anna Hedlund
, et al.
소스
PLoS Genetics, Vol 11, Iss 6, p e1005248 (2015)
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7 . Academic Journal
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
저자
by
Lisa S Andersson
;
Maria Wilbe
;
Agnese Viluma
;
Gus Cothran
;
Björn Ekesten
, et al.
소스
PLoS ONE, Vol 8, Iss 9, p e75639 (2013)
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7 . Academic Journal
DLA class II alleles are associated with risk for canine symmetrical lupoid onychodystrophy [corrected](SLO).
저자
by
Maria Wilbe
;
Martine Lund Ziener
;
Anita Aronsson
;
Charlotte Harlos
;
Katarina Sundberg
, et al.
소스
PLoS ONE, Vol 5, Iss 8, p e12332 (2010)
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7 . Academic Journal
Correction: DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystrophy (SLO).
저자
by
Maria Wilbe
;
Martine Lund Ziener
;
Anita Aronsson
;
Charlotte Harlos
;
Katarina Sundberg
, et al.
소스
PLoS ONE, Vol 5, Iss 9 (2010)
Open Access (DOAJ)
Web of Science
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7 .
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
저자
by
Josefin Johansson
;
Carina Frykholm
;
Katharina Ericson
;
Kalliopi Kazamia
;
Amanda Lindberg
, et al.
소스
American Journal of Medical Genetics Part A
. 188:1676-1687
Open Access (OpenAIRE)
Web of Science
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7 .
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
저자
by
Susana Häggqvist
;
Ulf Gyllensten
;
Marie-Louise Bondeson
;
Anastasia Emmanouilidou
;
Sanna Gudmundsson
, et al.
소스
Genome Biology
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
Open Access (OpenAIRE)
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7 .
A nonsense mutation inCEP55defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy
저자
by
Katharina Ericson
;
Adam Ameur
;
Carina Frykholm
;
Maria Wilbe
;
Jan Wesström
, et al.
소스
Clinical Genetics
. 92:510-516
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