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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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Web of Science
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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)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
저자
by
Izabella Körberg
;
Daniel Nowinski
;
Marie-Louise Bondeson
;
Malin Melin
;
Lars Kölby
, et al.
소스
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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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 .
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
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Web of Science
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7 .
Additional file 13 of Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
저자
by
Höijer, Ida
;
Johansson, Josefin
;
Gudmundsson, Sanna
;
Chen-Shan Chin
;
Bunikis, Ignas
, et al.
소스
Open Access (OpenAIRE)
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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 progressive and complex clinical course in two family members with ERF-related craniosynostosis : a case report
저자
by
Izabella Baranowska Körberg
;
Eva-Lena Stattin
;
Daniel Nowinski
;
Malin Melin
;
Marie-Louise Bondeson
, et al.
소스
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (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
Web of Science
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7 .
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
저자
by
Malin Melin
;
Paulino Gómez-Puertas
;
Iñigo Marcos-Alcalde
;
Marie-Louise Bondeson
;
Sanna Gudmundsson
, et al.
소스
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Open Access (OpenAIRE)
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