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1 . 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
Use of broad-spectrum antibiotics in children diagnosed with multisystem inflammatory syndrome temporarily associated with SARS-CoV-2 infection in Poland: the MOIS-CoR study
저자
by
Sawicka, Marta
;
BerdejSzczot, Elżbieta
;
Brzuszkiewicz, Sebastian
;
Buda, Piotr
;
Czajka, Alicja
, et al.
소스
In
International Journal of Infectious Diseases
September 2022 122:703-709
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7 . Academic Journal
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3
저자
by
Martin-Higueras, Cristina
;
Garrelfs, Sander F.
;
Groothoff, Jaap W.
;
Jacob, Dorrit E.
;
Moochhala, Shabbir H.
, et al.
소스
In
Kidney International
September 2021 100(3):621-635
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7 . Academic Journal
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
저자
by
Ranguelov, Nadejda
;
Godefroid, Nathalie
;
Collard, Laure
;
Lombet, Jacques
;
Maquet, Julie
, et al.
소스
In
The Journal of Pediatrics
August 2018 199:22-28
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7 . Academic Journal
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract
저자
by
Kołbuc, Marcin
;
Kołek, Mateusz F.
;
Motyka, Rafał
;
Bieniaś, Beata
;
Habbig, Sandra
, et al.
소스
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
. 39(6):1847-1858
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7 . Academic Journal
Accidentally detected nephrocalcinosis in a boy with a homozygous R396W mutation in the CYP24A1 gene - 7-year follow-up.
저자
by
Nowicki, Jakub Krzysztof
;
Maćkowska, Anna
;
Rychwalska, Małgorzata
;
Zaniew, Marcin
;
Jakubowska-Pietkiewicz, Elżbieta
.
소스
Polish Journal of Pediatrics / Pediatria Polska; 2023, Vol. 98 Issue 4, p357-361, 5p
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7 . Academic Journal
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
저자
by
Kolvenbach, Caroline M.
;
Felger, Tim
;
Schierbaum, Luca
;
Thiffault, Isabelle
;
Pastinen, Tomi
, et al.
소스
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p587-596, 10p
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7 . Periodical
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
저자
by
Ahram, Dina F.
;
Lim, Tze Y.
;
Ke, Juntao
;
Jin, Gina
;
Verbitsky, Miguel
, et al.
소스
Journal of the American Society of Nephrology; June 2023, Vol. 34 Issue: 6 p1105-1119, 15p
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7 . Academic Journal
Nephropathic cystinosis in Poland: a 40 -year retrospective study.
저자
by
Sikora, Przemysław
;
Grenda, Ryszard
;
Kowalczyk, Małgorzata
;
Kieć-Wilk, Beata
;
Bieniaś, Beata
, et al.
소스
Polish Archives of Internal Medicine; Nov2022, Vol. 132 Issue 11, p1-9, 9p
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7 . Academic Journal
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
저자
by
Kiryluk, Krzysztof
;
Sanchez-Rodriguez, Elena
;
Zhou, Xu-Jie
;
Zanoni, Francesca
;
Liu, Lili
, et al.
소스
Nature Genetics
. 55(7):1091-1105
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