Decreased sweat production in cystinosis

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

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The Undiagnosed Diseases Network International: Five years and more!

Molecular genetics and metabolism·2020

Bayesian model of disease progression in GNE myopathy.

Statistics in medicine·2018

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Molecular genetics and metabolism·2018

Hypercementosis Associated with ENPP1 Mutations and GACI.

Journal of dental research·2017

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Clinical genetics·2017

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

The Journal of pediatrics·2026

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The Journal of pediatrics·2026

Multisystem Inflammatory Syndrome Therapies in Children: A Comparative Effectiveness Trial.

The Journal of pediatrics·2026

Postnatal Growth Patterns in Children Born at Term and Preterm in a Large Primary Care Network.

The Journal of pediatrics·2026

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The Journal of pediatrics·2026

δ-Catenins couple cadherin adhesions to phospholipid-rich membrane domains.

bioRxiv : the preprint server for biology·2026

Static Friction of Liquid Marbles.

Physical review letters·2026

Physics-based forward modeling of edge diffraction scattering centers for complex coated scatterers.

Optics express·2026

Retraction notice to "Correlation between the particle size, structural and photoluminescence spectra of nano NiCr2O4 and La doped NiCr2O4 materials" [Heliyon 9 (2023) e21981].

Heliyon·2026

Emergent flocking dynamics in chemorepulsive active colloids: Interplay of disorder and noise.

The Journal of chemical physics·2026

Corrigendum to "Effect of water absorption of coarse aggregate on permeability, durability, and microstructure of concrete" [iScience 29 (2026) 116356].

iScience·2026

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Decreased sweat production in cystinosis

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Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

The Undiagnosed Diseases Network International: Five years and more!

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Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

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Static Friction of Liquid Marbles.

Physics-based forward modeling of edge diffraction scattering centers for complex coated scatterers.

Retraction notice to "Correlation between the particle size, structural and photoluminescence spectra of nano NiCr2O4 and La doped NiCr2O4 materials" [Heliyon 9 (2023) e21981].

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Decreased sweat production in cystinosis

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