Publications by authors named "Jill Beis"

Claim this Profile
G
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
Sarah van der Ende, Karen Bedard, Karin Wallace, Michael P Mackley, Mathew Nightingale, M Jill Beis

Invest Ophthalmol Vis Sci· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
June Duong, Andrea Rideout, Sara MacKay, Jill Beis, Sandhya Parkash

Eur J Med Genet· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
Pamela Jarrett, Alexander Easton, Kenneth Rockwood, Sarah Dyack, Alexander McCollum, M Jill Beis

Can J Neurol Sci· March 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Jill Beis

Nat Genet· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Johane M Robitaille, Binyou Zheng, Karin Wallace, M Jill Beis, Cuneyt Tatlidil

Br J Ophthalmol· April 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Duane L Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Jill Beis

Am J Hum Genet· July 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Severe retinopathy of prematurity associated with FZD4 mutations.
Anna Ells, Duane L Guernsey, Karin Wallace, Binyou Zheng, Michael Vincer, Jill Beis

Ophthalmic Genet· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Carol Gallione, Arthur S Aylsworth, Jill Beis, Terri Berk, Barbara Bernhardt

Am J Med Genet A· February 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.
Johane M Robitaille, Karin Wallace, Binyou Zheng, M Jill Beis, Mark Samuels

Ophthalmic Genet· March 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis