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1 . Academic Journal
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
저자
by
Nathan Buijsse
;
Floor E. Jansen
;
Charlotte W. Ockeloen
;
Marjan J. A. vanKempen
;
Shimriet Zeidler
, et al.
소스
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Open Access (Wiley)
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7 . Academic Journal
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
저자
by
Anne Hebert
;
Annet Simons
;
Janneke HM Schuurs-Hoeijmakers
;
Hans JPM Koenen
;
Evelien Zonneveld-Huijssoon
, et al.
소스
eLife, Vol 11 (2022)
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7 . Academic Journal
Germline AGO2 mutations impair RNA interference and human neurological development
저자
by
Davor Lessel
;
Daniela M. Zeitler
;
Margot R. F. Reijnders
;
Andriy Kazantsev
;
Fatemeh Hassani Nia
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
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7 . Academic Journal
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
저자
by
Kim Elsink
;
Manon M. H. Huibers
;
Iris H. I. M. Hollink
;
Annet Simons
;
Evelien Zonneveld-Huijssoon
, et al.
소스
Frontiers in Immunology, Vol 12 (2021)
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7 . Academic Journal
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
저자
by
Patrick Deelen
;
Sipko van Dam
;
Johanna C. Herkert
;
Juha M. Karjalainen
;
Harm Brugge
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
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7 . Academic Journal
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
저자
by
Peer Arts
;
Annet Simons
;
Mofareh S. AlZahrani
;
Elanur Yilmaz
;
Eman AlIdrissi
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
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7 . Academic Journal
Modulation of T cell function by combination of epitope specific and low dose anticytokine therapy controls autoimmune arthritis.
저자
by
Sarah T A Roord
;
Evelien Zonneveld-Huijssoon
;
Tho Le
;
Gisella Puga Yung
;
Eva Koffeman
, et al.
소스
PLoS ONE, Vol 1, p e87 (2006)
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7 .
POU3F3
‐related disorder: Defining the phenotype and expanding the molecular spectrum
저자
by
Alessandra Rossi
;
Lot Snijders Blok
;
Sonja Neuser
;
Chiara Klöckner
;
Konrad Platzer
, et al.
소스
Clinical Genetics
.
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7 .
Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
저자
by
Anne Hebert
;
Annet Simons
;
Janneke HM Schuurs-Hoeijmakers
;
Hans JPM Koenen
;
Evelien Zonneveld-Huijssoon
, et al.
소스
Open Access (OpenAIRE)
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7 .
Cohesin complex-associated holoprosencephaly
저자
by
Seth I. Berger
;
Maximilian Muenke
;
Omkar Hajirnis
;
Paul Kruszka
;
David R. Murdock
, et al.
소스
Brain
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press
Full Text (OUP)
Full Text (OUP Near Archive)
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