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1 . Academic Journal
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
저자
by
van Zutven, Laura J. C. M.
;
Mijalkovic, Jona
;
van Veghel-Plandsoen, Monique
;
Goense, Margaret
;
Polak, Marike
, et al.
소스
Molecular Cytogenetics (17558166)
. 9/29/2023, Vol. 16 Issue 1, p1-8. 8p.
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
저자
by
Rosenberg, Anna G. W.
;
Wellink, Charlotte M.
;
Tellez Garcia, Juan M.
;
Pellikaan, Karlijn
;
Van Abswoude, Denise H.
, et al.
소스
Journal of Clinical Medicine
. Jul2022, Vol. 11 Issue 14, p4033-4033. 27p.
Web of Science
Scopus
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7 . Academic Journal
Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability.
저자
by
van Zutven, Laura J. C. M.
;
Mancini, Grazia M. S.
;
Bindels‐de Heus, Karen G. C. B.
;
van den Akker, Erica L. T.
;
Hulsman, Lorette O. M.
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2018, Vol. 176 Issue 2, p492-495, 4p
Web of Science
Scopus
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7 . Academic Journal
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
저자
by
Srebniak, Malgorzata I.
;
van Zutven, Laura J. C. M.
;
Petit, Florence
;
Bouquillon, Sonia
;
van Heel, Ilse P. J.
, et al.
소스
Molecular Cytogenetics (17558166)
. 6/2/2016, Vol. 9, p1-8. 8p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
저자
by
Williams, Monique
;
Burlina, Alberto
;
Rubert, Laura
;
Polo, Giulia
;
Ruijter, George J. G.
, et al.
소스
SCIENTIFIC REPORTS
; OCT 18 2018, 8 p15436 7p.
Scopus
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7 . Academic Journal
The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
저자
by
Pellikaan, Karlijn
;
van Woerden, Geeske M.
;
Kleinendorst, Lotte
;
Rosenberg, Anna G. W.
;
Horsthemke, Bernhard
, et al.
소스
Genes
. Jun2021, Vol. 13 Issue 6, p875-875. 1p.
Web of Science
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7 . Academic Journal
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity
저자
by
Knijnenburg, Jeroen
;
Uytdewilligen, Madiek E. W.
;
van Hassel, Daniella A. C. M.
;
Oostenbrink, Rianne
;
Eussen, Bert H. J.
, et al.
소스
EUROPEAN JOURNAL OF MEDICAL GENETICS
; SEP 2017, 60 9, p445-p450, 6p.
Full Text (ScienceDirect)
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Scopus
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7 . Academic Journal
Social and medical need for whole genome high resolution NIPT.
저자
by
Srebniak, Malgorzata I.
;
Knapen, Maarten F. C. M.
;
Govaerts, Lutgarde C. P.
;
Polak, Marike
;
Joosten, Marieke
, et al.
소스
Molecular Genetics & Genomic Medicine
. Jan2020, Vol. 8 Issue 1, pN.PAG-N.PAG. 1p.
Open Access (Wiley)
Web of Science
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7 . Academic Journal
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping
저자
by
de Vree, Paula J. P.
;
de Wit, Elzo
;
Yilmaz, Mehmet
;
de Heijning, Monique van
;
Klous, Petra
, et al.
소스
NATURE BIOTECHNOLOGY
; OCT 2014, 32 10, p1019-p+, 9p.
Full Text (Nature)
Scopus
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7 . Academic Journal
Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion
저자
by
Verhoeven, Willem M. A.
;
Egger, Jos I. M.
;
Goffin, Luc
;
van Zutven, Laura J. C. M.
;
Mancini, Grazia M. S.
.
소스
EUROPEAN JOURNAL OF MEDICAL GENETICS
; JUN 2013, 56 6, p331-p335, 5p.
Full Text (ScienceDirect)
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