Caritas Baby Hospital

Top Publications

Top Publications Authored or Co-Authored in "Caritas Baby Hospital"

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

  ERJ Open Research, Volume 9, No. 2, Article 00714-2022, Year 2023, Citations 25
• Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard

  European Respiratory Journal, Volume 61, No. 4, Article 2202031, Year 2023, Citations 20
• An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia

  ERJ Open Research, Volume 8, No. 2, Article 00708-2021, Year 2022, Citations 19