Kathryn A Gunther (Kathryn Gunther)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Topics

Recombinant Human

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Kathryn A Gunther, Essam M Imseis, Joyce P Samuel, Elizabeth A Hillman, Tiina H Ojala, Timo Jahnukainen, Paul R Hillman
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity. Molecular genetics & genomic medicine (2023)
Abigail Kacpura, Marta Frigeni, Kathryn A Gunther, Laura Schoch Farach
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period. American journal of medical genetics. Part A 188 (6) (2022)
Kathryn A Gunther, Kate Mowrey, Laura Schoch Farach
Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome. Clinical case reports 9 (3) (2021)
Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra, Kathryn A Gunther, Paul R Hillman, Duraisamy Balaguru, Hope Northrup
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. American journal of medical genetics. Part A 185 (11) (2021)