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1 . Academic Journal
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
저자
by
Claus, Laura R.
;
Ernst, Robert F.
;
Elferink, Martin G.
;
van Deutekom, Hanneke W.M.
;
van der Zwaag, Bert
, et al.
소스
In
Kidney International Reports
September 2024 9(9):2695-2704
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7 . Academic Journal
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
저자
by
Nijman, Isaac J.
;
van Montfrans, Joris M.
;
Hoogstraat, Marlous
;
Boes, Marianne L.
;
van de Corput, Lisette
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
February 2014 133(2):529-534
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7 . Academic Journal
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
저자
by
Ramirez-Martinez, Andres
;
Yichi Zhang
;
van den Boogaard, Marie-Jose
;
McAnally, John R.
;
Rodriguez-Caycedo, Cristina
, et al.
소스
Journal of Clinical Investigation
. 6/1/2022, Vol. 132 Issue 11, p1-11. 11p.
Web of Science
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7 . Academic Journal
Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
저자
by
de Koning, Heleen D.
;
van Gijn, Mariëlle E.
;
Stoffels, Monique
;
Jongekrijg, Johanna
;
Zeeuwen, Patrick L.J.M.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
February 2015 135(2):561-564
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7 . Academic Journal
Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin.
저자
by
Hochstenbach, Ron
;
Elferink, Martin G.
;
van Zon, Patrick H. A.
;
Lichtenbelt, Klaske D.
;
van Harssel, Jeske
, et al.
소스
Clinical Case Reports
. May2018, Vol. 6 Issue 5, p788-791. 4p.
Open Access (Wiley)
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7 . Academic Journal
Signatures of Selection in the Genomes of Commercial and Non-Commercial Chicken Breeds.
저자
by
Elferink, Martin G.
;
Megens, Hendrik-Jan
;
Vereijken, Addie
;
Xiaoxiang Hu
;
Crooijmans, Richard P. M. A.
, et al.
소스
PLoS ONE
. Feb2012, Vol. 7 Issue 2, p1-11. 11p.
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7 . Academic Journal
Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo).
저자
by
Aslam, Muhammad L.
;
Bastiaansen, John WM
;
Elferink, Martin G.
;
Megens, Hendrik-Jan
;
Crooijmans, Richard PMA
, et al.
소스
BMC Genomics
. 2012, Vol. 13 Issue 1, p391-404. 15p. 4 Diagrams, 4 Charts.
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7 . Academic Journal
Regional differences in recombination hotspotsbetween two chicken populations.
저자
by
Elferink, Martin G.
;
van As, Pieter
;
Veenendaal, Tineke
;
Crooijmans, Richard P. M. A.
;
Groenen, Martien A. M.
.
소스
BMC Genetics
. 2010, Vol. 11, p11-20. 10p.
Open Access (BioMed Central)
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7 . Academic Journal
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken.
저자
by
Elferink, Martin G.
;
Vallée, Amélie A. A.
;
Jungerius, Annemieke P.
;
Crooijmans, Richard P. M. A.
;
Groenen, Martien A. M.
.
소스
BMC Genomics
. 2008, Vol. 9, Special section p1-9. 9p.
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7 . Academic Journal
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
저자
by
Van Opstal, Diane
;
van Maarle, Merel C.
;
Lichtenbelt, Klaske
;
Weiss, Marjan M.
;
Schuring-Blom, Heleen
, et al.
소스
GENETICS IN MEDICINE
; MAY 2018, 20 5, p480-p485, 6p.
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