7 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. 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. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

   1. Pehlivan, Davut
   2. Bayram, Yavuz
   3. Gunes, Nilay
   4. Coban Akdemir, Zeynep
   5. Shukla, Anju
   6. Bierhals, Tatjana
   7. Tabakci, Burcu

   2019 - 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. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

   1. Kortüm, Fanny
   2. Jamra, Rami Abou
   3. Alawi, Malik
   4. Berry, Susan A
   5. Borck, Guntram
   6. Helbig, Katherine L
   7. Tang, Sha

   2018 - Forschungsinformationssystem des UKE
6. 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
7. 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