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1 . Academic Journal
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
저자
by
Riedhammer, Korbinian M.
;
Nguyen, Thanh-Minh T.
;
Koşukcu, Can
;
Calzada-Wack, Julia
;
Li, Yong
, et al.
소스
In
Kidney International
April 2024 105(4):844-864
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7 . Academic Journal
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
저자
by
Antczak, P.
;
Birtel, J.
;
Bergmann, C.
;
Cetiner, M.
;
Dahmer-Heath, M.
, et al.
소스
In
Kidney International Reports
September 2022 7(9):2016-2028
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7 . Academic Journal
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
저자
by
Baiko, Sergey
;
Serna Higuita, Lina Maria
;
Schaefer, Franz
;
Trautmann, Agnes
;
Tabatabaeifar, Mansoureh
, et al.
소스
In
Kidney International
September 2022 102(3):604-612
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7 . Academic Journal
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
저자
by
Baiko, Sergey
;
Serna Higuita, Lina Maria
;
Schaefer, Franz
;
Trautmann, Agnes
;
Tabatabaeifar, Mansoureh
, et al.
소스
In
Kidney International
September 2022 102(3):592-603
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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
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?
저자
by
Riedhammer, Korbinian M.
;
Simmendinger, Hannes
;
Tasic, Velibor
;
Putnik, Jovana
;
Abazi‐Emini, Nora
, et al.
소스
Clinical Genetics
. Apr2024, Vol. 105 Issue 4, p406-414. 9p.
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7 . Academic Journal
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
저자
by
Krenn, Martin
;
Wagner, Matias
;
Zulehner, Gudrun
;
Weng, Rosa
;
Jäger, Fiona
, et al.
소스
Journal of Neurology
. Apr2024, Vol. 271 Issue 4, p1937-1946. 10p.
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7 . Academic Journal
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
저자
by
Deltas, Constantinos
;
Papagregoriou, Gregory
;
Louka, Stavroula F.
;
Malatras, Apostolos
;
Flinter, Frances
, et al.
소스
Genes
. Sep2023, Vol. 14 Issue 9, p1686. 18p.
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7 . Academic Journal
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
저자
by
Bakey, Zeineb
;
Cabrera, Oscar A.
;
Hoefele, Julia
;
Antony, Dinu
;
Wu, Kaman
, et al.
소스
PLoS Genetics
. 6/14/2023, Vol. 19 Issue 6, p1-29. 29p.
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7 . Academic Journal
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
저자
by
Schönauer, Ria
;
Jin, Wenjun
;
Findeisen, Christin
;
Valenzuela, Irene
;
Devlin, Laura Alice
, et al.
소스
American Journal of Human Genetics
. Jun2023, Vol. 110 Issue 6, p998-1007. 10p.
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