Katheryn Lynn Grand
13PUBLICATIONS
93CO-AUTHORS
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Publications (13)
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|Feb 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.Silvestre Cuinat, Paul Rollier, Katheryn Grand
|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize
|May 29, 2021
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.Zhiyu Qian, Katheryn Grand, Andrew Freedman
|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.Dong Li, Qin Wang, Naihua N Gong
|May 07, 2021
Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.Bahareh M Schweiger, Chaya L Esakhan, David Frishberg
|Apr 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.Pedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää
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Frequent Collaborators
4 joint publications
Elizabeth Joyce Bhoj
3 joint publications
Pedro A Sanchez-Lara
2 joint publications
Jennifer M Kalish
2 joint publications
Leslie Castelo-Soccio
2 joint publications
Sarah E Sheppard
1 joint publications
Odile Boespflug-Tanguy
1 joint publications
Chaya Murali
1 joint publications
Deema Aljeaid
1 joint publications
Emma Bedoukian
1 joint publications
Jullianne Diaz
