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Structure and activation mechanism of the human liver-type glutaminase GLS2.

Journal article

Ferreira IM. et al, (2021), Biochimie, 185, 96 - 104

A Single-Stranded DNA-Encoded Chemical Library Based on a Stereoisomeric Scaffold Enables Ligand Discovery by Modular Assembly of Building Blocks.

Journal article

Bassi G. et al, (2020), Advanced science (Weinheim, Baden-Wurttemberg, Germany), 7

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Journal article

Paternoster L. et al, (2020), American journal of medical genetics. Part A, 182, 2685 - 2693

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Journal article

Wortmann SB. et al, (2020), American journal of human genetics, 106, 256 - 263

RAC1 missense mutations cause diverse phenotypes and define Rhopathies as a new group of developmental disorders

Conference paper

Reijnders MRF. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 238 - 238

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Journal article

Heuberger K. et al, (2019), Biochim Biophys Acta Mol Basis Dis, 1865, 1265 - 1272

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

Journal article

Wempe MF. et al, (2019), J Inherit Metab Dis, 42, 565 - 574

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Journal article

Roberts NA. et al, (2019), Kidney Int, 95, 1138 - 1152

Substrate reduction therapy for inborn errors of metabolism

Journal article

Yue WW. et al, (2019), Emerging Topics in Life Sciences, 3, 63 - 73

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