A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Exploring the psychosocial implications of general population screening for paediatric type 1 diabetes in Europe: Protocol for a mixed-methods study.

Diabetic medicine : a journal of the British Diabetic Association·2026

Metabolic, genetic and immunological features of relatives of type 1 diabetes patients with elevated insulin resistance.

Journal of endocrinological investigation·2024

Role of chromogranin A-derived fragments after resection of nonfunctioning pancreatic neuroendocrine tumors.

Journal of endocrinological investigation·2022

The use of flash glucose monitoring significantly improves glycemic control in type 2 diabetes managed with basal bolus insulin therapy compared to self-monitoring of blood glucose: A prospective observational cohort study.

Diabetes research and clinical practice·2021

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Italian journal of pediatrics·2018

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Autophagy·2017

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Chronic Mixed-Allergen Exposure Induces Pulmonary Arterial Remodeling and Vascular Dysfunction in Mice.

American journal of physiology. Lung cellular and molecular physiology·2026

MODEX: A Modular and Extensible Force Field for Metal-Organic Frameworks.

Journal of chemical theory and computation·2026

Internal-locking intramedullary nails (talons, claws, wings, wedge-locks, endopins): a mechanics-guided scoping review of designs, failure signatures, and technique imperatives.

BMC musculoskeletal disorders·2026

IMU-weighted multimodal fusion for robust gesture recognition across arm positions.

Journal of neural engineering·2026

Continuous sliding pressure feedback enhances supernumerary robotic thumb proprioception over discrete vibrotactile feedback: Behavioral and EEG evidence.

Journal of neural engineering·2026

Related Experiment Videos

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Related Concept Videos

Exploring the psychosocial implications of general population screening for paediatric type 1 diabetes in Europe: Protocol for a mixed-methods study.

Metabolic, genetic and immunological features of relatives of type 1 diabetes patients with elevated insulin resistance.

Role of chromogranin A-derived fragments after resection of nonfunctioning pancreatic neuroendocrine tumors.

The use of flash glucose monitoring significantly improves glycemic control in type 2 diabetes managed with basal bolus insulin therapy compared to self-monitoring of blood glucose: A prospective observational cohort study.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Chronic Mixed-Allergen Exposure Induces Pulmonary Arterial Remodeling and Vascular Dysfunction in Mice.

MODEX: A Modular and Extensible Force Field for Metal-Organic Frameworks.

Internal-locking intramedullary nails (talons, claws, wings, wedge-locks, endopins): a mechanics-guided scoping review of designs, failure signatures, and technique imperatives.

IMU-weighted multimodal fusion for robust gesture recognition across arm positions.

Continuous sliding pressure feedback enhances supernumerary robotic thumb proprioception over discrete vibrotactile feedback: Behavioral and EEG evidence.

Related Experiment Videos

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

Related Concept Videos

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