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1 . Academic Journal
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
저자
by
Kiewiet, Gea
;
Westra, Dineke
;
de Boer, Eddy N.
;
van Berkel, Emma
;
Hofste, Tom G. J.
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p20, 17p
Scopus
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7 . Academic Journal
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
저자
by
Marouane, Abderrahim
;
Neveling, Kornelia
;
Deden, A. Chantal
;
van den Heuvel, Simone
;
Zafeiropoulou, Dimitra
, et al.
소스
Frontiers in Genetics; 2024, p1-9, 9p
Web of Science
Scopus
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7 . Academic Journal
Sensitive, reliable and easy-performed laboratory monitoring of eculizumab therapy in atypical hemolytic uremic syndrome
저자
by
Volokhina, Elena B.
;
van de Kar, Nicole C.A.J.
;
Bergseth, Grethe
;
van der Velden, Thea J.A.M.
;
Westra, Dineke
, et al.
소스
In
Clinical Immunology
October 2015 160(2):237-243
Full Text (ScienceDirect)
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7 . Academic Journal
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
저자
by
Veldman, Abigail
;
Kiewiet, M. B. Gea
;
Westra, Dineke
;
Bosch, Annet M.
;
Brands, Marion M. G.
, et al.
소스
International Journal of Neonatal Screening (IJNS); Dec2023, Vol. 9 Issue 4, p56, 20p
Scopus
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7 . Academic Journal
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center.
저자
by
Faradz, Sultana M.H.
;
Listyasari, Nurin
;
Utari, Agustini
;
Ariani, Mahayu Dewi
;
Juniarto, Achmad Zulfa
, et al.
소스
Sexual Development
. Sep2023, p1-11. 11p. 4 Illustrations, 2 Charts.
Web of Science
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7 . Academic Journal
All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.
저자
by
Faas, Brigitte H. W.
;
Westra, Dineke
;
de Munnik, Sonja A.
;
van Rij, Maartje
;
Marcelis, Carlo
, et al.
소스
Prenatal Diagnosis; Apr2023, Vol. 43 Issue 4, p527-543, 17p
Web of Science
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7 . Academic Journal
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
저자
by
Michels, Marloes A. H. M.
;
Wijnsma, Kioa L.
;
Kurvers, Roel A. J.
;
Westra, Dineke
;
Schreuder, Michiel F.
, et al.
소스
Pediatric Nephrology
. Mar2022, Vol. 37 Issue 3, p601-612. 12p. 3 Charts, 2 Graphs.
Web of Science
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7 . Academic Journal
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
저자
by
Veldman, Abigail
;
Kiewiet, Mensiena B. G.
;
Heiner-Fokkema, Margaretha Rebecca
;
Nelen, Marcel R.
;
Sinke, Richard J.
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2022, Vol. 8 Issue 1, p17-N.PAG, 11p
Scopus
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7 . Academic Journal
Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
저자
by
ten Dam, Leroy
;
Frankhuizen, Wendy S.
;
Linssen, Wim H.J.P.
;
Straathof, Chiara S.
;
Niks, Erik H.
, et al.
소스
Clinical Genetics
. Aug2019, Vol. 96 Issue 2, p126-133. 8p. 1 Diagram, 2 Charts.
Web of Science
Scopus
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7 . Periodical
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
저자
by
Westra, Dineke
;
Schouten, Meyke I.
;
Stunnenberg, Bas C.
;
Kusters, Benno
;
Saris, Christiaan G.J.
, et al.
소스
Journal of Neuromuscular Diseases; November 2019, Vol. 6 Issue: 2 p241-258, 18p
Web of Science
Scopus
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