Last Updated: 09/26/2026
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Found 73 publications
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Journal: Molecular genetics and metabolism
Published: September 20, 2024
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
Journal: Clinical autonomic research : official journal of the Clinical Autonomic Research Society
Published: September 05, 2023
The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Journal: Genetics in medicine open
Published: July 28, 2023
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.
Journal: Frontiers in genetics
Published: July 28, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Journal: American journal of medical genetics. Part A
Published: July 17, 2023
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L.
Journal: American journal of medical genetics. Part A
Published: October 31, 2022
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
Journal: Ophthalmic genetics
Published: July 20, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Journal: PLoS genetics
Published: March 24, 2022
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: March 17, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Journal: Journal of inherited metabolic disease
Published: January 24, 2022
Last Updated: 09/26/2026