Publications:

Kidney failure in Bardet-Biedl syndrome.

Clinical Genetics

Meyer, Jennifer R JR; Krentz, Anthony D AD; Berg, Richard L RL; Richardson, Jesse G JG; Pomeroy, Jeremy J; Hebbring, Scott J SJ; Haws, Robert M RM

Publication Date: 2022-04

Variant appearance in text: BBS: 909_912del

PubMed Link: 35112343

Variant Present in the following documents:

• Main text
• CGE-101-429.pdf

View BVdb publication page

Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies.

Stem Cell Reports

Barabino, Andrea A; Flamier, Anthony A; Hanna, Roy R; Héon, Elise E; Freedman, Benjamin S BS; Bernier, Gilbert G

Publication Date: 2020-03-10

Variant appearance in text: BBS: 909_912del

PubMed Link: 32160518

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page