Skip to Main Content

Residents & Fellows

Yale School of Medicine/

Research
News

People

Publications

Discoveries

INFORMATION FOR

About YSM
Faculty
Staff
Students
Residents & Fellows
Patients
Researchers
Alumni

Back to Kaya Bilguvar, MD, PhD

Publications

Featured and Publish Date (Newest First)
Publish Date: Newest to Oldest
Publish Date: Oldest to Newest
Title: A-Z
Title: Z-A
Most Cited
Most Discussed

Showing 1 of 1 Publications

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl
Alkaya D, Akpınar E, Bilguvar K, Tüysüz B. Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. American Journal Of Medical Genetics Part A 2021, 185: 2271-2277. PMID: 33837634, DOI: 10.1002/ajmg.a.62198.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

Download Full List

Filter By

Authors

Showing applied filters for Yale Authors:

Organizations

Showing results for Most published Organizations:

Neurogenetics Program(1)

Categories

Peer-Reviewed Original Research(1)

Publish Date

From

To

MeSH Keywords

Showing applied filters for Tagged Keywords:

Showing results for Top tagged Keywords:

Humans(128)
Female(78)
Male(74)
Mutation(66)
Pedigree(35)

Concepts

Showing results for Top Concepts:

Anterior fontanelle(1)
Biallelic mutations(1)
Bone dysplasia(1)
Bone fragility(1)
Bone metaphysis(1)

333 Cedar Street
New Haven, CT 06510
Maps & Directions
412 Events
you could attend in November 2024
Calendar
Contact Us

Intranet
Site Editor
Accessibility at YSM
Nondiscrimination & Title IX
Safety & Security
Terms & Privacy Statement
Yale University

© 2024 Yale School of Medicine. Updated 09/17/2024

Your browser is antiquated and no longer supported on this website. Please update your browser or switch to Chrome, Firefox or Safari.
You can update your IE here:
https://support.microsoft.com/en-us/help/17621/internet-explorer-downloads