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Cross-architecture tuning of silicon and SiGe-based quantum devices using machine learning.

Scientific reports·2024

Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.

Frontiers in pediatrics·2023

Nanostructured 3C-SiC on Si by a network of (111) platelets: a fully textured film generated by intrinsic growth anisotropy.

Physical chemistry chemical physics : PCCP·2022

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.

AJNR. American journal of neuroradiology·2022

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway.

Nature communications·2019

Voltage-tunable dual-band Ge/Si photodetector operating in VIS and NIR spectral range.

Optics express·2019

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Human mutation·2026

Identification of COPZ1 as a Shared Candidate Ferroptosis-Related Hub Gene in Periodontitis and Inflammatory Bowel Disease.

Human mutation·2026

Genetic origin and forensic analysis of han populations from four districts in Shanghai, China, based on Y-chromosome STR and SNP markers.

International journal of legal medicine·2026

A novel Doppler ultrasound approach for phenotypic assessment and follow-up of Klippel-Trénaunay syndrome: A retrospective multicenter study.

Phlebology·2026

A familial 22.59 Mb deletion of the 10q11.21q21.3 region on the neocentromeric chromosome 10 with coexistence of SMC(10): Case report and review of literature.

Cytogenetic and genome research·2026

Cognitive flexibility deficits differ between the sexes in a transchromosomic mouse model of Down syndrome.

Disease models & mechanisms·2026

Compromised striatal structure and function in mouse models of RARB-related disorder.

Brain : a journal of neurology·2026

Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling.

eLife·2026

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Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency

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Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency

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