Delphine Blain
6PUBLICATIONS
57CO-AUTHORS
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Publications (6)
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|Jul 03, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndrome.Uma M Neelathi, Ehsan Ullah, Aman George
|Nov 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.Uma M Neelathi, Ehsan Ullah, Aman George
|Nov 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.Uma M Neelathi, Ehsan Ullah, Aman George
|May 28, 2022
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.Volha V Malechka, Catherine A Cukras, Emily Y Chew
|Mar 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Maria Solaki, Britta Baumann, Peggy Reuter
|Dec 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.Vijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li
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Frequent Collaborators
5 joint publications
Yuri V Sergeev
4 joint publications
Robert B Hufnagel
4 joint publications
Ehsan Ullah
3 joint publications
Siying Lin
3 joint publications
Amelia Naik
3 joint publications
Brian P Brooks
3 joint publications
Aman George
3 joint publications
Chloe Adams
3 joint publications
Tun Giap Tan
3 joint publications
Uma M Neelathi
