A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures

Targeted therapy in BRAF mutated aggressive papillary craniopharyngioma: a case report and overview of the literature.

Journal of endocrinological investigation·2024

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

Bone·2023

Effectiveness of standard cervical physiotherapy plus diaphragm manual therapy on pain in patients with chronic neck pain: A randomized controlled trial.

Journal of bodywork and movement therapies·2021

Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2019

Arthrodesis of the ankle joint in septic osteoarthritis: six years long term outcomes in authors' personal experience.

European review for medical and pharmacological sciences·2019

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning.

Molecular cytogenetics·2017

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal diagnosis·2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Prenatal diagnosis·2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Prenatal diagnosis·2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Prenatal diagnosis·2026

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal diagnosis·2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report.

Diagnostics (Basel, Switzerland)·2026

Identification of the Novel HLA-DQB1*06:556 Allele by Next-Generation Sequencing.

HLA·2026

The HLA-A*24:02:190 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing.

HLA·2026

Characterisation of the Novel HLA-DQB1*05:01:56 Allele Using Next-Generation Sequencing in a Chinese Cord Blood Donor.

HLA·2026

Identification of the Novel HLA-DRB4*01:01:13 Allele in a Chinese Individual.

HLA·2026

Characterisation of a New HLA Allele by Next-Generation Sequencing: HLA-C*06:424Q.

HLA·2026

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A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures

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Targeted therapy in BRAF mutated aggressive papillary craniopharyngioma: a case report and overview of the literature.

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Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples.

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Characterisation of the Novel HLA-DQB1*05:01:56 Allele Using Next-Generation Sequencing in a Chinese Cord Blood Donor.

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A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures

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