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Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

artículo científico publicado en 2020

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2020

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome

article

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

scientific article published on 22 July 2019

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

scientific article published on 05 June 2020

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

scientific article published on 04 September 2020

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

artículo científico publicado en 2022

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

artículo científico publicado en 2022

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