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1 . Academic Journal
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease
저자
by
Gigarel, N
;
Frydman, N
;
Burlet, P
;
Kerbrat, V
;
Tachdjian, G
, et al.
소스
In
Reproductive BioMedicine Online
2008 16(1):152-158
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7 . Academic Journal
Diagnostic prénatal de la polykystose rénale récessive autosomique
저자
by
Gagnadoux, M.F
;
Attié, T
;
Amiel, J
;
Gigarel, N
;
Bonnefont, J.P
, et al.
소스
In
Archives de pédiatrie
2000 7(9):942-947
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7 . Academic Journal
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
저자
by
Schueler, Markus
;
Halbritter, Jan
;
Phelps, Ian G
;
Braun, Daniela A
;
Otto, Edgar A
, et al.
소스
Journal of Medical Genetics
. Mar 01, 2016 53(3):208-214
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7 . Academic Journal
Hypoplasies vermiennes avec atteintes extracérébrales (rétine, rein, foie) : des syndromes difficiles à classer
저자
by
Graber, D
;
Antignac, C
;
Deschenes, G
;
Coulin, A
;
Hermouet, Y
, et al.
소스
In
Archives de pédiatrie
2001 8(2):186-190
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7 . Academic Journal
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency
저자
by
Ceballos-Picot, I
;
Guest, G
;
Moriniere, V
;
Mockel, L
;
Daudon, M
, et al.
소스
Clinical Genetics
. Aug 01, 2011 80(2):199-201
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7 . Academic Journal
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
저자
by
Otto, E A
;
Tory, K
;
Attanasio, M
;
Zhou, W
;
Chaki, M
, et al.
소스
Journal of Medical Genetics
. Oct 01, 2009 46(10):663-670
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7 . Academic Journal
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
저자
by
Sharp, A M
;
Messiaen, L M
;
Page, G
;
Antignac, C
;
Gubler, M-C
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Apr 01, 2005 42(4):336-349
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7 . Academic Journal
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients
저자
by
Cruz-Robles, D
;
García-Torres, R
;
Antignac, C
;
Forestier, L
;
de la Puente, S García
, et al.
소스
Clinical Genetics
. Sep 01, 1999 56(3):242-243
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7 .
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study
저자
by
David Fasel
;
Gerald B. Appel
;
Corinne Antignac
;
Hila Milo Rasouly
;
Andrew S. Bomback
, et al.
소스
Open Access (OpenAIRE)
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7 . Periodical
Evidence for further genetic heterogeneity in nephronophthisis.
저자
by
Omran, H
;
Häffner, K
;
Burth, S
;
Ala-Mello, S
;
Antignac, C
, et al.
소스
Nephrology Dialysis Transplantation; April 2001, Vol. 16 Issue: 4 p755-758, 4p
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