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1 . Academic Journal
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome
저자
by
Billon, Clarisse
;
Piccoli, Giorgina Barbara
;
de Sainte Agathe, Jean-Madeleine
;
Stoeva, Radka
;
Derive, Nicolas
, et al.
소스
Molecular Genetics and Genomics
. 299(1)
Web of Science
Scopus
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7 . Academic Journal
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
저자
by
Faviez, Carole
;
Vincent, Marc
;
Garcelon, Nicolas
;
Boyer, Olivia
;
Knebelmann, Bertrand
, et al.
소스
Orphanet Journal of Rare Diseases
. 19(1)
Open Access (BioMed Central)
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7 . Academic Journal
Post-obstructive diuresis after posterior urethral valve treatment in neonates: a retrospective cohort study
저자
by
Sartorius, Victor
;
Giuseppi, Agnès
;
Iacobelli, Silvia
;
Leroy-Terquem, Elise
;
Vinit, Nicolas
, et al.
소스
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
. 39(2):505-511
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7 . Academic Journal
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
저자
by
Carole Faviez
;
Marc Vincent
;
Nicolas Garcelon
;
Olivia Boyer
;
Bertrand Knebelmann
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
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7 . Academic Journal
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
저자
by
Ariceta, Gema
;
Benetti, Elisa
;
Benz, Marcus R.
;
Bjerre, Anna
;
Boudailliez, Bernard R.
, et al.
소스
In
Kidney International Reports
August 2024 9(8):2514-2526
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7 . Academic Journal
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
저자
by
Boutaba, Mounia
;
Csaiscich, Dagmar
;
Baiko, Sergay
;
Azocar, Marta
;
Quiroz, Lily
, et al.
소스
In
Kidney International Reports
April 2024 9(4):973-981
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7 . Academic Journal
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids
저자
by
Hassan Saei
;
Marie Boisson
;
Christelle Arrondel
;
Bruno Estebe
;
Nicolas Cagnard
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101032- (2024)
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7 . Academic Journal
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
저자
by
Hassan Saei
;
Jessica Kachmar
;
Vincent Morinière
;
Laurence Heidet
;
Olivier Gribouval
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101065- (2024)
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7 . Academic Journal
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation
저자
by
Buffet, Alexandre
;
Filser, Mathilde
;
Bruel, Alexandra
;
Dard, Rodolphe
;
Quibel, Thibaud
, et al.
소스
In
Genetics in Medicine
July 2024
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7 . Academic Journal
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
저자
by
Attié-Bitach, Tania
;
Comier-Daire, Valerie
;
Rozet, Jean-Michel
;
Frishberg, Yaacov
;
Llanas, Brigitte
, et al.
소스
In
Kidney International
August 2023 104(2):378-387
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