Saskia Bulk
Liege, WAL, Belgium
Last Updated: 09/26/2026
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Found 28 publications
Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: July 17, 2025
Diagnostic algorithm of fetal sex discordance in the era of genomic NIPT : clinical illustration and practical recommendation
Journal: Revue medicale de Liege
Published: April 17, 2025
Genomic findings with familial implications: agenda setting in light of mainstreaming.
Journal: Open research Europe
Published: December 19, 2024
Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Journal: European journal of medical genetics
Published: September 10, 2024
Population-based, first-tier genomic newborn screening in the maternity ward.
Journal: Nature medicine
Published: July 22, 2024
Solitary kidney in a patient with Pallister-Hall syndrome.
Journal: Kidney international
Published: December 03, 2023
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Journal: International journal of molecular sciences
Published: December 30, 2022
Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.
Journal: Clinics and practice
Published: July 22, 2022
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2021
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Journal: Obstetrics and gynecology
Published: November 10, 2020
Last Updated: 09/26/2026