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1 . Academic Journal
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
저자
by
Rio, M
;
Royer, G
;
Gobin, S
;
Blois, M C
;
Ozilou, C
, et al.
소스
Clinical Genetics
. Jul 01, 2013 84(1):31-36
Web of Science
Scopus
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7 . Academic Journal
A CGH study of 27 patients with CHARGE association.
저자
by
Sanlaville, D
;
Romana, SP
;
Lapierre, JM
;
Amiel, J
;
Genevieve, D
, et al.
소스
Clinical Genetics
. Feb2002, Vol. 61 Issue 2, p135-138. 4p. 1 Diagram, 1 Chart.
Web of Science
Scopus
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7 . Academic Journal
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
저자
by
Joly, G
;
Lapierre, J-M
;
Ozilou, C
;
Gosset, P
;
Aurias, A
, et al.
소스
Clinical Genetics
. Sep2001, Vol. 60 Issue 3, p212-219. 8p.
Web of Science
Scopus
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7 . Academic Journal
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
저자
by
Sanlaville, D
;
Etchevers, H C
;
Gonzales, M
;
Martinovic, J
;
Clément-Ziza, M
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Mar 01, 2006 43(3):211-317
Full Text (BMJ Journals)
Web of Science
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7 . Academic Journal
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
저자
by
Rio, M
;
Molinari, F
;
Heuertz, S
;
Ozilou, C
;
Gosset, P
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2002 39(4):266-270
Full Text (BMJ Journals)
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7 . Academic Journal
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties
저자
by
Genevieve, D
;
Sanlaville, D
;
Faivre, L
;
Kottler, ML
;
Jambou, M
, et al.
소스
EUROPEAN JOURNAL OF HUMAN GENETICS
; SEP 2005, 13 9, p1033-p1039, 7p.
Scopus
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7 . Academic Journal
Functional disomy of the Xq28 chromosome region
저자
by
Sanlaville, D
;
Prieur, M
;
de Blois, MC
;
Genevieve, D
;
Lapierre, JM
, et al.
소스
EUROPEAN JOURNAL OF HUMAN GENETICS
; MAY 2005, 13 5, p579-p585, 7p.
Scopus
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7 . Academic Journal
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
저자
by
Karmous-Benailly, H
;
Martinovic, J
;
Gubler, MC
;
Sirot, Y
;
Clech, L
, et al.
소스
AMERICAN JOURNAL OF HUMAN GENETICS
; MAR 2005, 76 3, p493-p504, 12p.
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Scopus
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7 . Academic Journal
A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances
저자
by
Lapierre, JM
;
Sanlaville, D
;
Kang, J
;
Ozilou, C
;
Le Lorc'h, M
, et al.
소스
ANNALES DE BIOLOGIE CLINIQUE
; MAR-APR 2004, 62 2, p203-p212, 10p.
Scopus
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7 . Academic Journal
Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature
저자
by
Brisset, S
;
Joly, G
;
Ozilou, C
;
Lapierre, JM
;
Gosset, P
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS
; DEC 15 2002, 113 4, p339-p345, 7p.
Scopus
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