Last Updated: 09/26/2026
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Found 62 publications
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.
Journal: European journal of endocrinology
Published: March 23, 2026
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.
Journal: American journal of medical genetics. Part A
Published: July 15, 2025
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.
Journal: American journal of medical genetics. Part A
Published: July 15, 2025
Pseudohypoxia and family history are key predictors of severe outcomes in hereditary pheochromocytoma and paraganglioma syndromes.
Journal: European journal of endocrinology
Published: June 27, 2025
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Journal: Human molecular genetics
Published: June 25, 2025
IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.
Journal: Pediatric blood & cancer
Published: May 27, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.
Journal: Orphanet journal of rare diseases
Published: November 09, 2024
A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 31, 2024
Last Updated: 09/26/2026