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1 . Academic Journal
Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families.
저자
by
Sistermans, Erik A
.
소스
Clinical Chemistry; May2024, Vol. 70 Issue 5, p687-689, 3p
Full Text (OUP)
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3 .
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
저자
by
Holstege, Henne
;
Hulsman, Marc
;
Charbonnier, Camille
;
Grenier-Boley, Benjamin
;
Quenez, Olivier
, et al.
소스
Nature genetics, vol 54, iss 12
Open Access (OpenAIRE)
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7 . Periodical
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; April 2018, Vol. 20 Issue: 5 p480-485, 6p
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results
저자
by
Huijsdens–van Amsterdam, Karin
;
Straver, Roy
;
van Maarle, Merel C
;
Knegt, Alida C
;
Van Opstal, Diane
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 20(11):1472-1476
Full Text (ScienceDirect)
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7 . Academic Journal
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome
저자
by
Huijsdens-van Amsterdam, Karin
;
Page-Christiaens, Lieve
;
Flowers, Nicola
;
Bonifacio, Michael D
;
Ellis, Katie M Battese
, et al.
소스
European Journal of Human Genetics
. 26(10):1490-1496
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7 .
Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: a national population-based register study
저자
by
van der Meij, Karuna R M
;
de Groot-van Mooren, Maurike
;
Carbo, Ellen W S
;
Pieters, Mijntje J
;
Rodenburg, Wendy
, et al.
소스
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7 . Academic Journal
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
저자
by
Beunders, Gea
;
de Munnik, Sonja A
;
Van der Aa, Nathalie
;
Ceulemans, Berten
;
Voorhoeve, Els
, et al.
소스
European Journal of Human Genetics
. Jun2015, Vol. 23 Issue 6, p803-807. 5p.
Web of Science
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7 . Academic Journal
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
저자
by
van Dijk, Fleur S
;
Byers, Peter H
;
Dalgleish, Raymond
;
Malfait, Fransiska
;
Maugeri, Alessandra
, et al.
소스
European Journal of Human Genetics
. Jan2012, Vol. 20 Issue 1, p11-19. 9p. 2 Diagrams, 4 Charts.
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7 . Academic Journal
A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms
저자
by
Beunders, Gea
;
van de Kamp, Jiddeke M
;
Veenhoven, Reinier H
;
van Hagen, Johanna M
;
Nieuwint, Aggie W
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2010 47(4):271-275
Full Text (BMJ Journals)
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7 . Academic Journal
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
저자
by
Sistermans, Erik A
;
de Coo, René FM
;
van Beerendonk, Hetty M
;
Poll-The, Bwee Tien
;
Kleijer, Wim J
, et al.
소스
European Journal of Human Genetics
. Jul2000, Vol. 8 Issue 7, p557. 4p.
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