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Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.
Nano Letters|April 4, 2012
Dynamic negative compressibility of few-layer graphene, h-BN, and MoS2Ana Paula M Barboza, Helio Chacham, Camilla K Oliveira, et al.
American Journal of Medical Genetics. Part A|August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndromeOrna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.
Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
Small (Weinheim an Der Bergstrasse, Germany)|October 8, 2024
Giant Valley Zeeman Splitting in Vanadium-Doped WSe<sub>2</sub> MonolayersFrederico B Sousa, Matheus J S Matos, Bruno R Carvalho, et al.
Nano Letters|June 27, 2012
In situ atomic force microscopy tip-induced deformations and Raman spectroscopy characterization of single-wall carbon nanotubesP T Araujo, N M Barbosa Neto, H Chacham, et al.
ACS Nano|April 26, 2018
Apparent Softening of Wet Graphene Membranes on a Microfluidic PlatformGustavo A Ferrari, Alan B de Oliveira, Ive Silvestre, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
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