2 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. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

   1. Schneeberger, Pauline E
   2. Nayak, Shalini S
   3. Fuchs, Sigrid
   4. Kutsche, Kerstin
   5. Girisha, Katta M

   2020 - Forschungsinformationssystem des UKE