Stefanie Weber

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Heon Yung Gee, Edgar A. Otto, Toby W. Hurd et al. · Kidney International · 2013 · 72 citations · Full text

Urology, Renal Function, Medicine +9

Enhancement of nitric oxide production by pulmonary cells following silica exposure.

Vincent Castranova, Linda J. Huffman, Deloris J. Judy et al. · Environmental Health Perspectives · 1998 · 58 citations · Full text

Asthma, Lung Inflammation, Nitric Oxide +19

Strategies for the treatment of pneumoconiosis.

Daniel E. Banks, Yaobei Cheng, Stefanie Weber et al. · PubMed · 1993 · 25 citations

Asthma, Translational Medicine, Antibiotics +12

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin et al. · Orphanet Journal of Rare Diseases · 2023 · 23 citations · Full text

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath et al. · Orphanet Journal of Rare Diseases · 2024 · 19 citations · Full text

Rare Diseases, Infectious Disease Epidemiology, Disease Diagnosis +8