Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects
Nina Reitz, Jessica Lambertz, Öznur Yilmaz, Tobias Lindenberg et autres
0 citationsScientific Reports
Julia Hoefele
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146Publications signalées
5032Citations signalées
7Affiliations récentes
Institutions déclarées
Domaines associés
Renal and related cancersRenal Diseases and GlomerulopathiesGenetic and Kidney Cyst DiseasesCell Adhesion Molecules ResearchGenomics and Rare Diseases
Publications récentes
CKDx – chronische Nierenerkrankung unklarer Ursache
Svjetlana Lovric, Julia Hoefele
0 citationsDie Nephrologie
Lang bekannt, in neuem Licht: Alport-Syndrom und Alport-Spektrum-Erkrankung
Florian J. Wopperer, Julia Hoefele, Korbinian M. Riedhammer
0 citationsDie Nephrologie
Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney
Patrick R. Walsh, Uttiya Basu, Tahsin Stefan Barakat, Bodo B. Beck et autres
0 citationsKidney International
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC1
Andrea Wenzel, Björn Reusch, Karl X. Knaup, Nikola Zagorec et autres
0 citationsKidney International
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Alicia B. Byrne, Anna S. Li, Edmund Y. M. Chung, Enyonam Edoh et autres
0 citationsNature Reviews Nephrology
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results
Korbinian M. Riedhammer, Patrick Richthammer, Dominik S. Westphal, Jasmina Ćomić et autres
0 citationsEuropean Journal of Human Genetics
‘Missing’ disease-causing variants in Alport syndrome
Judy Savige, Adam Bournazos, Tomoko Horinouchi, Bryony A. Thompson et autres
4 citationsNature Reviews Nephrology
Genetics of CAKUT
Alina C. Hilger, Rik Westland, Julia Hoefele
1 citationMedizinische Genetik
Genetic kidney diseases – from discovery to precision care
0 citationsMedizinische Genetik
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Alicia B. Byrne, Anna S. Li, Edmund Y. M. Chung, Enyonam Edoh et autres
0 citationsUtrecht University Repository (Utrecht University)
Präventive Magenchirurgie bei hereditärem Magenkarzinom und genetischer Prädisposition
H. J. Stein, Christian Heiliger, Julius von Frankenberg, Julia Hoefele et autres
1 citationZentralblatt für Chirurgie - Zeitschrift für Allgemeine Viszeral- Thorax- und Gefäßchirurgie
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