4 Einträge gefunden

1. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

   1. Holling, Tess
   2. Nampoothiri, Sheela
   3. Tarhan, Bedirhan
   4. Schneeberger, Pauline E
   5. Vinayan, Kollencheri Puthenveettil
   6. Yesodharan, Dhanya
   7. Roy, Arun Grace

   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. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

   1. Bierhals, Tatjana
   2. Maddukuri, Satish Babu
   3. Kutsche, Kerstin
   4. Girisha, Katta Mohan

   2013 - Forschungsinformationssystem des UKE