6 Einträge gefunden

1. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

   1. Holling, Tess
   2. Bhavani, Gandham S
   3. von Elsner, Leonie
   4. Shah, Hitesh
   5. Kausthubham, Neethukrishna
   6. Bhattacharyya, Shaila S
   7. Shukla, Anju

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

   1. Girisha, Katta Mohan
   2. Kortüm, Fanny
   3. Shah, Hitesh
   4. Alawi, Malik
   5. Dalal, Ashwin
   6. Bhavani, Gandham SriLakshmi
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
3. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

   1. Girisha, Katta Mohan
   2. Bidchol, Abdul Mueed
   3. Graul-Neumann, Luitgard
   4. Gupta, Ashish
   5. Hehr, Ute
   6. Lessel, Davor
   7. Nader, Sean

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
4. 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
5. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

   1. Klopocki, Eva
   2. Kähler, Christian
   3. Foulds, Nicola
   4. Shah, Hitesh
   5. Joseph, Benjamin
   6. Vogel, Hermann
   7. Lüttgen, Sabine

   2012 - Forschungsinformationssystem des UKE
6. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

   1. Dalal, Ashwin
   2. Bhavani, G
   3. Lakshmi, Sri
   4. Bierhals, Tatjana
   5. Bierhals, Tatjana
   6. Nandineni, Madhusudan R
   7. Danda, Sumita

   2012 - Forschungsinformationssystem des UKE