Friedhelm Hildebrandt (Amelie T van der Ven)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2021
Publications (10 Years): 6

Top Venues

Pediatric nephrology (Berlin, Germany)

Human genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Friedhelm Hildebrandt, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Tatjana Bierhals, Davor Lessel, Theresia Herget, Katja Kloth, Jasmin Lisfeld, Tasja Scholz, Nadia Obi, Saskia Wortmann, Holger Prokisch, Christian Kubisch, Jonas Denecke, René Santer, Maja Hempel
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clinical genetics 100 (6) (2021)
Hongbo Xiao, Friedhelm Hildebrandt
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatric nephrology (Berlin, Germany) (2021)
Ali Amar, Amar J Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A Braun, Shirlee Shril, Ankana Daga, Tilman Jobst-Schwan, Mumtaz Ahmad, John A Sayer, Heon Yung Gee, Jan Halbritter, Thomas Knöpfel, Nati Hernando, Andreas Werner, Carsten Wagner, Shagufta Khaliq, Friedhelm Hildebrandt
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Human genetics 138 (3) (2019)
Thomas M Kitzler, Ronen Schneider, Stefan Kohl, Caroline M Kolvenbach, Dervla M Connaughton, Rufeng Dai, Nina Mann, Makiko Nakayama, Amar J Majmundar, Chen-Han W Wu, Jameela A Kari, Sherif M El Desoky, Prabha Senguttuvan, Radovan Bogdanovic, Natasa Stajic, Zaheer Valivullah, Monkol Lek, Shrikant Mane, Richard P Lifton, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Human genetics 138 (10) (2019)
Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle Baum, Ghaleb Daouk, Michael A Ferguson, Nancy Rodig, Michael J G Somers, Deborah R Stein, Asaf Vivante, Jillian K Warejko, Eugen Widmeier, Friedhelm Hildebrandt
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatric nephrology (Berlin, Germany) 33 (2) (2017)
Asaf Vivante, Hadas Ityel, Ben Pode-Shakked, Jing Chen, Shirlee Shril, Amelie T van der Ven, Nina Mann, Johanna Magdalena Schmidt, Reeval Segel, Adi Aran, Avraham Zeharia, Orna Staretz-Chacham, Omer Bar-Yosef, Annick Raas-Rothschild, Yuval E Landau, Richard P Lifton, Yair Anikster, Friedhelm Hildebrandt
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatric nephrology (Berlin, Germany) 32 (12) (2017)

Friedhelm Hildebrandt.css-eqlu8i{font-size:small;padding-left:4px;} (Amelie T van der Ven)

Publication Activity (10 Years)

Top Topics

Top Venues

Friedhelm Hildebrandt (Amelie T van der Ven)