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1 . Academic Journal
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
저자
by
Ambrose, John C.
;
Arumugam, Prabhu
;
Bevers, Roel
;
Bleda, Marta
;
Boardman-Pretty, Freya
, et al.
소스
In
Gastroenterology
May 2024 166(5):902-914
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7 . Academic Journal
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
저자
by
Ambrose, John C.
;
Arumugam, Prabhu
;
Bevers, Roel
;
Bleda, Marta
;
Boardman-Pretty, Freya
, et al.
소스
In
Kidney International
July 2023
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7 . Academic Journal
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
저자
by
Wopperer, Florian J.
;
Knaup, Karl X.
;
Stanzick, Kira J.
;
Schneider, Karen
;
Jobst-Schwan, Tilman
, et al.
소스
In
Kidney International
August 2022 102(2):405-420
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7 . Academic Journal
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
저자
by
Köttgen, Anna
;
Cornec-Le Gall, Emilie
;
Halbritter, Jan
;
Kiryluk, Krzysztof
;
Mallett, Andrew J.
, et al.
소스
In
Kidney International
June 2022 101(6):1126-1141
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7 . Academic Journal
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
저자
by
Živná, Martina
;
Kidd, Kendrah
;
Zaidan, Mohamad
;
Vyleťal, Petr
;
Barešová, Veronika
, et al.
소스
In
Kidney International
December 2020 98(6):1589-1604
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7 . Academic Journal
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
저자
by
Olinger, Eric
;
Hofmann, Patrick
;
Kidd, Kendrah
;
Dufour, Inès
;
Belge, Hendrica
, et al.
소스
In
Kidney International
September 2020 98(3):717-731
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7 . Academic Journal
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
저자
by
Huynh, Vinh T.
;
Audrézet, Marie-Pierre
;
Sayer, John A.
;
Ong, Albert C.
;
Lefevre, Siriane
, et al.
소스
In
Kidney International
August 2020 98(2):476-487
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7 . Academic Journal
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
저자
by
Ambrose, John C.
;
Arumugam, Prabhu
;
Bevers, Roel
;
Bleda, Marta
;
Boardman-Pretty, Freya
, et al.
소스
In
Genetics in Medicine Open
2024 2
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7 . Academic Journal
International Society of Nephrology first consensus guidance for preclinical animal studies in translational nephrology
저자
by
Angeletti, Andrea
;
Bedard, Patricia W.
;
Benigni, Ariela
;
Granqvist, Anna Björnson
;
Chabova, Vera Certikova
, et al.
소스
In
Kidney International
July 2023 104(1):36-45
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7 . Academic Journal
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
저자
by
Majmundar, Amar J.
;
Widmeier, Eugen
;
Heneghan, John F.
;
Daga, Ankana
;
Wu, Chen-Han Wilfred
, et al.
소스
In
Genetics in Medicine
March 2023 25(3)
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