Unusual presentation of fragile X syndrome

Prematurity and Genetic Testing for Neonatal Diabetes.

Pediatrics·2016

Recent Advances in Imprinting Disorders.

Clinical genetics·2016

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

American journal of medical genetics. Part A·2015

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Journal of endocrinological investigation·2014

Syncoilin is an intermediate filament protein in activated hepatic stellate cells.

Histochemistry and cell biology·2013

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Diabetologia·2013

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Lancet (London, England)·2026

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Lancet (London, England)·2026

Aetiology, management, and outcomes of acute heart failure in 17 African countries (THESUS-HF II): a prospective, multicentre, observational cohort study.

Lancet (London, England)·2026

Adverse pregnancy outcomes and long-term cardiovascular disease risk.

Lancet (London, England)·2026

Discontinuation of β-blockers in stable patients with previous myocardial infarction, preserved left ventricular ejection fraction, and no heart failure: a pooled analysis of individual patient data.

Lancet (London, England)·2026

Safety and efficacy of the 0/1 h pathway for myocardial infarction in the emergency department: an international, pragmatic, stepped-wedge, cluster-randomised, controlled trial.

Lancet (London, England)·2026

Erratum: Zero-profile interbody fusion in single and two-level anterior cervical discectomy and fusion: a novel surgical system and its indications.

Journal of spine surgery (Hong Kong)·2026

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

HLA·2026

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

CHEST pulmonary·2026

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Bioengineering (Basel, Switzerland)·2026

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

The Journal of the Association of Physicians of India·2026

Ventricular Migration of Transcatheter Valve During Transcatheter Aortic Valve Replacement After Valve-Sparing Root Replacement: A Case Report.

Journal of the Society for Cardiovascular Angiography & Interventions·2026

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Unusual presentation of fragile X syndrome

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Prematurity and Genetic Testing for Neonatal Diabetes.

Recent Advances in Imprinting Disorders.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Syncoilin is an intermediate filament protein in activated hepatic stellate cells.

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Aetiology, management, and outcomes of acute heart failure in 17 African countries (THESUS-HF II): a prospective, multicentre, observational cohort study.

Adverse pregnancy outcomes and long-term cardiovascular disease risk.

Discontinuation of β-blockers in stable patients with previous myocardial infarction, preserved left ventricular ejection fraction, and no heart failure: a pooled analysis of individual patient data.

Safety and efficacy of the 0/1 h pathway for myocardial infarction in the emergency department: an international, pragmatic, stepped-wedge, cluster-randomised, controlled trial.

Erratum: Zero-profile interbody fusion in single and two-level anterior cervical discectomy and fusion: a novel surgical system and its indications.

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

Ventricular Migration of Transcatheter Valve During Transcatheter Aortic Valve Replacement After Valve-Sparing Root Replacement: A Case Report.

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