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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain, 143(8), 2437–2453. https://doi.org/10.1093/brain/awaa204

Publication: Journal Article

“Biallelic MADD Variants Cause a Phenotypic Spectrum Ranging from Developmental Delay to a Multisystem Disorder. Brain, 143(8), 2437–2453. Https://Doi.org/10.1093/Brain/Awaa204”. 2020. Brain.

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. American journal of medical genetics. Part A, 179(9), 1783–1790.

Publication: Journal Article

“Expanding Phenotype With Severe Midline Brain Anomalies and Missense Variant Supports a Causal Role for FOXA2 in 20p11.2 Deletion Syndrome. American Journal of Medical Genetics. Part A, 179(9), 1783–1790.”. 2019. American Journal of Medical Genetics.

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. Journal of inherited metabolic disease, 44(1), 253–263. https://doi.org/10.1002/jimd.12313

Publication: Journal Article

“Effects of Triheptanoin (UX007) in Patients With Long-Chain Fatty Acid Oxidation Disorders: Results from an Open-Label, Long-Term Extension Study. Journal of Inherited Metabolic Disease, 44(1), 253–263. Https://Doi.org/10.1002/Jimd.12313”. 2021. Journal of Inherited Metabolic Disease.

Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator. Pharmacogenomics, 20(2), 69–73. https://doi.org/10.2217/pgs-2018-0145

Publication: Journal Article

“Prolonged Clonazepam-Induced Withdrawal Symptoms in an NAT2 Ultraslow Acetylator. Pharmacogenomics, 20(2), 69–73. Https://Doi.org/10.2217/Pgs-2018-0145”. 2019. Journal of Iaculis Nisl Facilisis Malesuada Maecenas.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). Journal of inherited metabolic disease, 42(1), 169–177.

Publication: Journal Article

“Results from a 78-Week, Single-Arm, Open-Label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients With Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD). Journal of Inherited Metabolic Disease, 42(1), 169–177.”. 2019. Journal of Inherited Metabolic Disease.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American journal of human genetics, 104(6), 1210–1222.

Publication: Journal Article

“Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 104(6), 1210–1222.”. 2019. American Journal of Human Genetics.