Infantile spasms in a patient with partial duplication of chromosome 2p

Zinc- and Fluoride-Releasing Bioactive Glass as a Novel Bone Substitute.

Journal of dental research·2024

Effective method of monitoring cerebral tissue oxygen saturation in cardiac surgery patients by combined use of tNIRS-1 and bispectral index.

Scientific reports·2021

Antibacterial polyetheretherketone implants immobilized with silver ions based on chelate-bonding ability of inositol phosphate: processing, material characterization, cytotoxicity, and antibacterial properties.

Journal of biomedical materials research. Part A·2014

Steroid sulphatase and oestrogen sulphotransferase in human non-small-cell lung carcinoma.

British journal of cancer·2013

Incidence and risk factors of clinical characteristics, tacrolimus pharmacokinetics, and related genomic polymorphisms for posttransplant diabetes mellitus in the early stage of renal transplant recipients.

Transplantation proceedings·2005

Serum sex steroid hormone levels and polymorphisms of CYP17 and SRD5A2: implication for prostate cancer risk.

Prostate cancer and prostatic diseases·2004

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

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

Children with unilateral spastic cerebral palsy have smaller and weaker tibias in the spastic limb compared to the non-spastic limb.

Bone reports·2026

Secretory IgA and butyrate depletion in Southeast Chinese infants with cow's milk allergy: pathogenic link and diagnostic biomarker.

Open medicine (Warsaw, Poland)·2026

Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.

Therapeutic advances in neurological disorders·2026

MSCA HOPE - Physical education in hospital schools: A protocol paper for systematic and umbrella reviews with policy framework analysis.

Open research Europe·2026

The PREFERENDO Delphi consensus: Advanced reporting standards for pediatric gastrointestinal endoscopy.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2026

Intranasal stem cell treatment ameliorates neuroinflammation and myelin aberrations in fetal growth-restricted rat pups.

Stem cells translational medicine·2026

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Infantile spasms in a patient with partial duplication of chromosome 2p

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Zinc- and Fluoride-Releasing Bioactive Glass as a Novel Bone Substitute.

Effective method of monitoring cerebral tissue oxygen saturation in cardiac surgery patients by combined use of tNIRS-1 and bispectral index.

Antibacterial polyetheretherketone implants immobilized with silver ions based on chelate-bonding ability of inositol phosphate: processing, material characterization, cytotoxicity, and antibacterial properties.

Steroid sulphatase and oestrogen sulphotransferase in human non-small-cell lung carcinoma.

Incidence and risk factors of clinical characteristics, tacrolimus pharmacokinetics, and related genomic polymorphisms for posttransplant diabetes mellitus in the early stage of renal transplant recipients.

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Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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Children with unilateral spastic cerebral palsy have smaller and weaker tibias in the spastic limb compared to the non-spastic limb.

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Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.

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Infantile spasms in a patient with partial duplication of chromosome 2p

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