Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

Optimal Positive Control Assays for Methylation-Specific PCR.

Clinical chemistry·2026

Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Clinical chemistry·2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Clinical chemistry·2026

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Clinical chemistry·2026

Factors Affecting Difficulties Faced by Women During their First Year of Clean Intermittent Self-Catheterization.

International urogynecology journal·2026

Cradling Communities: Nursing Students Lead Tiny Cubs Baby Showers for Education.

Nursing education perspectives·2026

Depressive symptoms mediate the association between loneliness and cognitive performance in women living with HIV: findings from the Women's Interagency HIV Study.

AIDS care·2026

Discussing menopausal symptoms at work and associations with taboo, symptom severity, and need for recovery after work.

Menopause (New York, N.Y.)·2026

The Effectiveness of a Prenatal Educational Programme on Fear of Childbirth Among Primigravida Women: A quasi-experimental pretest-post-test study.

Sultan Qaboos University medical journal·2026

Multiorgan Toxicity Following Rifapentine and Isoniazid Therapy for Latent Tuberculosis Infection: A Case Report.

Cureus·2026

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Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

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Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

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