E-LIB Suche - Ergebnisse für: Hildebrandt, Friedhelm

1

Phenotypic quantification of Nphs1-deficient mice:

Schneider, Ronen ; Mansour, Bshara ; Kolvenbach, Caroline M....
Journal of Nephrology. , 2024

Link: https://doi.org/10.1007/..

2

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports. , 2024

Link: https://doi.org/10.1016/..

3

Quantifiable and reproducible phenotypic assessment of a co..:

Lemberg, Katharina ; Mertens, Nils D. ; Yousef, Kirollos...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

4

Collaborative effort: managing Bardet-Biedl syndrome in ped..:

Nowak-Ciołek, Maria ; Ciołek, Michał ; Tomaszewska, Agnieszka...
Frontiers in Endocrinology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

5

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

6

Recessive variants in MYO1C as a potential novel cause of p..:

Elmubarak, Izzeldin ; Shril, Shirlee ; Mansour, Bshara...
Pediatric Nephrology. , 2024

Link: https://doi.org/10.1007/..

7

The evolving landscape of monogenic nephrolithiasis and the..:

Wu, Chen-Han Wilfred ; Huang, Yu-Ren ; Bodner, Donald...
Nature Reviews Urology. , 2024

Link: https://doi.org/10.1038/..

8

Exome sequencing identifies a likely causative variant in 5..:

Deutsch, Konstantin ; Klämbt, Verena ; Kitzler, Thomas M....
Genes & Diseases. 11 (2024) 5 - p. 101111 , 2024

Link: https://doi.org/10.1016/..

9

P009: Genetics prevalence of cystine stone: A 6 year longit..:

Chang, Joshua ; Badreddine, Jad ; Eam, Euhun...
Genetics in Medicine Open. 1 (2023) 1 - p. 100019 , 2023

Link: https://doi.org/10.1016/..

10

Genetic stratification reveals COL4A variants and spontaneo..:

Elshafey, Samar Atef ; Thabet, Mohamed Alaa Eldin Hassan ; Abo Elwafa, Reham Abdel Haleem...
Acta Paediatrica. 112 (2023) 6 - p. 1324-1332 , 2023

Link: https://doi.org/10.1111/..

11

Congenital Anomalies of the Kidney and Urinary Tract:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics,

Connaughton, Dervla M. ; Hildebrandt, Friedhelm - p. 3-38 , 2023

Link: https://doi.org/10.1016/..

12

The genetics and pathogenesis of CAKUT:

Kolvenbach, Caroline M. ; Shril, Shirlee ; Hildebrandt, Friedhelm
Nature Reviews Nephrology. , 2023

Link: https://doi.org/10.1038/..

13

Disease modeling of ADAMTS9-related nephropathy using kidne..:

Yu, Seyoung ; Choi, Yo Jun ; Rim, John Hoon...
Frontiers in Medicine. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

14

LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 ..:

Kim, Dong Yun ; Sub, Yu Jin ; Kim, Hye-Youn...
Cell Communication and Signaling. 21 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

15

Copy number variation analysis in 138 families with steroid..:

Pantel, Dalia ; Mertens, Nils D. ; Schneider, Ronen...
Pediatric Nephrology. 39 (2023) 2 - p. 455-461 , 2023

Link: https://doi.org/10.1007/..