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Schönauer, Ria
55  Ergebnisse:
Personensuche X
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1

Sex, Genotype, and Liver Volume Progression as Risk of Hosp..:

Schönauer, Ria ; Sierks, Dana ; Boerrigter, Melissa...
Gastroenterology.  166 (2024)  5 - p. 902-914 , 2024
Link: https://doi.org/10.1053/..
 
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2

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports.  9 (2024)  8 - p. 2484-2497 , 2024
Link: https://doi.org/10.1016/..
 
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3

KidneyNetwork: using kidney-derived gene expression data to..:

Boulogne, Floranne ; Claus, Laura R. ; Wiersma, Henry...
European Journal of Human Genetics.  31 (2023)  11 - p. 1300-1308 , 2023
Link: https://doi.org/10.1038/..
 
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4

Delta weight loss unlike genetic variation associates with ..:

Scherer, Lotte ; Schönauer, Ria ; Nemitz-Kliemchen, Melanie...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

OXGR1 is a candidate disease gene for human calcium oxalate..:

Majmundar, Amar J. ; Widmeier, Eugen ; Heneghan, John F....
Genetics in Medicine.  25 (2023)  3 - p. 100351 , 2023
Link: https://doi.org/10.1016/..
 
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6

Monoallelic intragenic POU3F2 variants lead to neurodevelop..:

Schönauer, Ria ; Jin, Wenjun ; Findeisen, Christin...
The American Journal of Human Genetics.  110 (2023)  6 - p. 998-1007 , 2023
Link: https://doi.org/10.1016/..
 
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7

Mechanisms of pathogenicity and the quest for genetic modif..:

Sewerin, Sebastian ; Aurnhammer, Charlotte ; Skubic, Cene...
Clinical Kidney Journal.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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8

Clinical and Functional Assessment of Digenicity in Renal P..:

Petzold, Friederike ; Schönauer, Ria ; Werner, Andreas.
Nutrients.  15 (2023)  9 - p. 2081 , 2023
Link: https://doi.org/10.3390/..
 
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9

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT..:

Petzold, Friederike ; Jin, Wenjun ; Hantmann, Elena...
Clinical Kidney Journal.  15 (2022)  7 - p. 1333-1339 , 2022
Link: https://doi.org/10.1093/..
 
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10

Systematic assessment of monogenic etiology in adult‐onset ..:

Schönauer, Ria ; Scherer, Lotte ; Nemitz‐Kliemchen, Melanie...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  3 - p. 279-288 , 2022
Link: https://doi.org/10.1002/..
 
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11

Modelling polycystic liver disease progression using age-ad..:

Sierks, Dana ; Schönauer, Ria ; Friedrich, Anja...
JHEP Reports.  4 (2022)  11 - p. 100579 , 2022
Link: https://doi.org/10.1016/..
 
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12

MO047: Biallelic pathogenic variants in ROBO1 associate wit..:

Münch, Johannes ; Engesser, Marie ; Schönauer, Ria...
Nephrology Dialysis Transplantation.  37 (2022)  Supplement_3 - p. , 2022
Link: https://doi.org/10.1093/..
 
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13

Defective claudin-10 causes a novel variation of HELIX synd..:

Sewerin, Sebastian ; Piontek, Jörg ; Schönauer, Ria...
Genes & Diseases.  9 (2022)  5 - p. 1301-1314 , 2022
Link: https://doi.org/10.1016/..
 
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14

MO049FUNCTIONAL IMPORTANCE OF MAPKBP1 PROTEIN DOMAINS IN NE..:

Hartig, Christin ; Schönauer, Ria ; Sewerin, Sebastian...
Nephrology Dialysis Transplantation.  36 (2021)  Supplement_1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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15

Challenging Disease Ontology by Instances of Atypical PKHD1..:

de Fallois, Jonathan ; Schönauer, Ria ; Münch, Johannes...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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