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The Journal of Clinical Endocrinology and Metabolism|September 30, 2020
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal HyperplasiaSalma R Ali, Jillian Bryce, Houra Haghpanahan, et al.
Journal of the Endocrine Society|September 11, 2024
Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022Xanthippi Tseretopoulou, Salma R Ali, Jillian Bryce, et al.
American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.
American Journal of Human Genetics|April 11, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureNavin B Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, et al.
Human Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.
European Journal of Endocrinology|January 14, 2026
Contemporary Global Management of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia in Early Infancy: A Multi-national Registry StudyDavid B N Lim, Jillian Bryce, Salma R Ali, et al.
Endocrine Connections|March 5, 2026
Glucocorticoid Prescribing Trends in Congenital Adrenal Hyperplasia, 2017 to 2023A Roxas, A Gihawi, M Makarchuk, et al.
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