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11 . Academic Journal
NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence
저자
by
Weber, Stefanie
;
Gribouval, Olivier
;
Esquivel, Ernie L.
;
Morinière, Vincent
;
Tête, Marie-Josèphe
, et al.
소스
In
Kidney International
August 2004 66(2):571-579
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17 . Academic Journal
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
저자
by
Jordan, Penelope
;
Dorval, Guillaume
;
Arrondel, Christelle
;
Morinière, Vincent
;
Tournant, Carole
, et al.
소스
Human Mutation; Mar2022, Vol. 43 Issue 3, p347-361, 15p
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17 . Academic Journal
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
저자
by
Dorval, Guillaume
;
Jeanpierre, Cécile
;
Morinière, Vincent
;
Tournant, Carole
;
Bessières, Bettina
, et al.
소스
Pediatric Nephrology
. Aug2021, Vol. 36 Issue 8, p2361-2369. 9p. 1 Color Photograph, 1 Diagram, 1 Chart.
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17 . Academic Journal
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
저자
by
Fila, Marc
;
Morinière, Vincent
;
Eckart, Philippe
;
Terzic, Joelle
;
Gubler, Marie-Claire
, et al.
소스
Pediatric Nephrology
. Jun2020, Vol. 35 Issue 6, p1125-1128. 4p. 1 Diagram.
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17 . Academic Journal
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.
저자
by
Iorio, Pauline
;
Heidet, Laurence
;
Rutten, Caroline
;
Garcelon, Nicolas
;
Audrézet, Marie-Pierre
, et al.
소스
Pediatric Nephrology
. Jun2020, Vol. 35 Issue 6, p1033-1040. 8p. 5 Diagrams, 1 Chart, 2 Graphs.
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17 . Academic Journal
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions
저자
by
Jávorszky, Eszter
;
Morinière, Vincent
;
Kerti, Andrea
;
Balogh, Eszter
;
Pikó, Henriett
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 55(6):809-816
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17 . Periodical
School level of children carrying a HNF1B variant or a deletion
저자
by
Laliève, Fanny
;
Decramer, Stéphane
;
Heidet, Laurence
;
Baudouin, Véronique
;
Lahoche, Annie
, et al.
소스
European Journal of Human Genetics: EJHG; January 2020, Vol. 28 Issue: 1 p56-63, 8p
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17 . Academic Journal
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract
저자
by
Heidet, Laurence
;
Morinière, Vincent
;
Henry, Charline
;
De Tomasi, Lara
;
Reilly, Madeline Louise
, et al.
소스
Journal of the American Society of Nephrology
. Oct 01, 2017 28(10):2901-2914
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17 . Academic Journal
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
저자
by
Bedin, Mathilda
;
Boyer, Olivia
;
Servais, Aude
;
Li, Yong
;
Villoing-Gaude, Laure
, et al.
소스
JOURNAL OF CLINICAL INVESTIGATION
; JAN 2020, 130 1, p335-p344, 10p.
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17 . Periodical
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
저자
by
Petzold, Friederike
;
Billot, Katy
;
Chen, Xiaoyi
;
Henry, Charline
;
Filhol, Emilie
, et al.
소스
Kidney International; 20230101, Issue: Preprints
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