Boyan I. Dimitrov

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 14 publications

The influence of termination of pregnancy for foetal abnormality on subsequent reproductive decision-making.

The influence of termination of pregnancy for foetal abnormality on subsequent reproductive decision-making.

Journal: Journal of reproductive and infant psychology

Published: October 22, 2025

RBMX functional retrocopy safeguards brain development in a species-dependent context.

RBMX functional retrocopy safeguards brain development in a species-dependent context.

Journal: Brain : a journal of neurology

Published: September 11, 2025

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

Journal: Prenatal diagnosis

Published: July 10, 2025

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Journal: Clinical genetics

Published: December 06, 2024

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

Journal: Prenatal diagnosis

Published: January 02, 2024

Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11.

Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11.

Journal: Genes

Published: December 17, 2023

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.

Journal: European journal of human genetics : EJHG

Published: August 28, 2022

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Journal: Brain : a journal of neurology

Published: September 20, 2021

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.

Journal: Journal of neuropathology and experimental neurology

Published: April 13, 2021

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

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

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Journal: American journal of medical genetics. Part A

Published: January 20, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026