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1 . Academic Journal
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
저자
by
Buysse, Karen
;
Delle Chiaie, Barbara
;
Van Coster, Rudy
;
Loeys, Bart
;
De Paepe, Anne
, et al.
소스
In
European Journal of Medical Genetics
2009 52(6):398-403
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7 . Academic Journal
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
저자
by
Van der Aa, Nathalie
;
Rooms, Liesbeth
;
Vandeweyer, Geert
;
van den Ende, Jenneke
;
Reyniers, Edwin
, et al.
소스
In
European Journal of Medical Genetics
2009 52(2):94-100
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7 . Academic Journal
Redefining the MED13L syndrome.
저자
by
Adegbola, Abidemi
;
Musante, Luciana
;
Callewaert, Bert
;
Maciel, Patricia
;
Hu, Hao
, et al.
소스
European Journal of Human Genetics
. Oct2015, Vol. 23 Issue 10, p1308-1317. 10p.
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7 . Academic Journal
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
저자
by
Baetens, Dorien
;
Mladenov, Wilhelm
;
Delle Chiaie, Barbara
;
Menten, Björn
;
Desloovere, An
, et al.
소스
Orphanet Journal of Rare Diseases
. 2014, Vol. 9 Issue 1, p416-440. 25p.
Open Access (BioMed Central)
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7 . Academic Journal
Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
저자
by
Krawitz, Peter M.
;
Murakami, Yoshiko
;
Hecht, Jochen
;
Krüger, Ulrike
;
Holder, Susan E.
, et al.
소스
American Journal of Human Genetics
. Jul2012, Vol. 91 Issue 1, p146-151. 6p.
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7 . Periodical
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
저자
by
Brady, Paul Daniel
;
Delle Chiaie, Barbara
;
Christenhusz, Gabrielle
;
Dierickx, Kris
;
Van Den Bogaert, Kris
, et al.
소스
Genetics in Medicine; June 2014, Vol. 16 Issue: 6 p469-476, 8p
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7 .
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
저자
by
Mitter, Diana
;
Delle Chiaie, Barbara
;
Lüdecke, Hermann-Josef
;
Gillessen-Kaesbach, Gabriele
;
Bohring, Axel
, et al.
소스
American Journal of Medical Genetics Part A
. :1213-1224
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7 . Academic Journal
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
저자
by
Vergult, Sarah
;
Dauber, Andrew
;
Delle Chiaie, Barbara
;
Van Oudenhove, Elke
;
Simon, Marleen
, et al.
소스
EUROPEAN JOURNAL OF HUMAN GENETICS
; MAY 2012, 20 5, p534-p539, 6p.
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7 . Academic Journal
Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
저자
by
Menten, Bjorn
;
Swerts, Katrien
;
Delle Chiaie, Barbara
;
Janssens, Sandra
;
Buysse, Karen
, et al.
소스
BMC MEDICAL GENETICS
; SEP 14 2009, 10 p89 5p.
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7 . Academic Journal
Genomic microarrays-challenges and opportunities: 5-year experience in a diagnostic setting
저자
by
Vergult, Sarah
;
Buysse, Karen
;
Delle Chiaie, Barbara
;
Janssens, Sandra
;
Vanakker, Olivier
, et al.
소스
CHROMOSOME RESEARCH
; JUN 2011, 19 pS25-pS25, 1p. Supplement: 1
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