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1 . Academic Journal
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
저자
by
Kmochová, Tereza
;
Kidd, Kendrah O.
;
Orr, Andrew
;
Hnízda, Aleš
;
Hartmannová, Hana
, et al.
소스
In
Kidney International
April 2024 105(4):799-811
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7 . Academic Journal
A Novel Monoallelic ALG5 Variant Causing Late-onset ADPKD and Tubulointerstitial Fibrosis
저자
by
Elhassan, Elhussein A.E.
;
Kmochová, Tereza
;
Benson, Katherine A.
;
Fennelly, Neil K.
;
Barešová, Veronika
, et al.
소스
In
Kidney International Reports
April 2024
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7 . Academic Journal
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
저자
by
Sikora, Jakub
;
Kmochová, Tereza
;
Mušálková, Dita
;
Pohludka, Michal
;
Přikryl, Petr
, et al.
소스
In
Kidney International
February 2022 101(2):349-359
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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
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
저자
by
Kidd, Kendrah
;
Vylet’al, Petr
;
Schaeffer, Céline
;
Olinger, Eric
;
Živná, Martina
, et al.
소스
In
Kidney International Reports
September 2020 5(9):1472-1485
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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
Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
저자
by
Mušálková, Dita
;
Přistoupilová, Anna
;
Jedličková, Ivana
;
Hartmannová, Hana
;
Trešlová, Helena
, et al.
소스
Genes, Brain & Behavior
. Feb2024, Vol. 23 Issue 1, p1-24. 24p.
Open Access (Wiley)
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7 . Academic Journal
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
저자
by
Vlckova, Marketa
;
Simandlova, Martina
;
Zimmermann, Pavel
;
Stranecky, Viktor
;
Hartmannova, Hana
, et al.
소스
In
European Journal of Medical Genetics
October 2015 58(10):550-555
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7 . Academic Journal
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
저자
by
Park, Eon Joo
;
Grabińska, Kariona A.
;
Guan, Ziqiang
;
Stránecký, Viktor
;
Hartmannová, Hana
, et al.
소스
In
Cell Metabolism
2 September 2014 20(3):448-457
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7 .
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
저자
by
Jorge, Sofia
;
Kidd, Kendrah
;
Vylet’al, Petr
;
Nogueira, Estela
;
Martin, Lauren
, et al.
소스
In
Kidney International Reports
January 2023
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