7 Einträge gefunden

1. EBF3 Neurodevelopmental Disorder

   1. Narayanan, Dhanya Lakshmi
   2. Kutsche, Kerstin
   3. Girisha, Katta M

   2021 - Forschungsinformationssystem des UKE
2. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

   1. Chopra, Maya
   2. McEntagart, Meriel
   3. Clayton-Smith, Jill
   4. Platzer, Konrad
   5. Shukla, Anju
   6. Girisha, Katta M
   7. Kaur, Anupriya

   2021 - Forschungsinformationssystem des UKE
3. 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
4. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

   1. Girisha, Katta M
   2. von Elsner, Leonie
   3. Neethukrishna, Kausthubham
   4. Muranjan, Mamta
   5. Shukla, Anju
   6. Bhavani, Gandham SriLakshmi
   7. Nishimura, Gen

   2019 - Forschungsinformationssystem des UKE
5. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

   1. Harms, Frederike Leonie
   2. Girisha, Katta M
   3. Hardigan, Andrew A
   4. Kortüm, Fanny
   5. Shukla, Anju
   6. Alawi, Malik
   7. Dalal, Ashwin

   2017 - Forschungsinformationssystem des UKE
6. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

   1. Shukla, Anju
   2. Hebbar, Malavika
   3. Harms, Frederike L
   4. Kadavigere, Rajagopal
   5. Girisha, Katta M
   6. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
7. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

   1. Girisha, Katta M
   2. Abdollahpour, Hengameh
   3. Shah, Hitesh
   4. Bhavani, Gandham Srilakshmi
   5. Graham, John M
   6. Boggula, Vijay Raju
   7. Phadke, Shubha R

   2014 - Forschungsinformationssystem des UKE