3 Einträge gefunden

1. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

   1. Nayak, Shalini S
   2. Schneeberger, Pauline E
   3. Patil, Siddaramappa J
   4. Arun, Karegowda M
   5. Suresh, Pujar V
   6. Kiran, Viralam S
   7. Siddaiah, Sateesh

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

   1. van der Ven, Amelie T
   2. Johannsen, Jessika
   3. Kortüm, Fanny
   4. Wagner, Matias
   5. Tsiakas, Konstantinos
   6. Bierhals, Tatjana
   7. Lessel, Davor

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

   1. Scholz, Tasja
   2. Blohm, Martin Ernst
   3. Kortüm, Fanny
   4. Bierhals, Tatjana
   5. Lessel, Davor
   6. van der Ven, Amelie T
   7. Lisfeld, Jasmin

   2021 - Forschungsinformationssystem des UKE