Concepedia
Author
Shelley Towner
Also Known As
Ping Yee Billie Au, Shelley Towner
8
Publications
158
Citations
6
H-Index
0
Concepts
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All Concepts
4
110
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, +49
Genetics in Medicine
2020
48
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, Michael Zech, +26
30
BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome
Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, +14
The Journal of Clinical Endocrinology & Metabolism
2021
19
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient
Natascia Malerba, Shelley Towner, Katherine E. Keating, +3
Frontiers in Genetics
2018
13
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