Alexander Gheldof

Brussels, BRU 1090, Belgium

Last Updated: 09/26/2026

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Found 30 publications

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Journal: Journal of assisted reproduction and genetics

Published: September 20, 2024

Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism.

Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism.

Journal: Genes & diseases

Published: August 28, 2024

Development and validation of a high-throughput screening pipeline of compound libraries to target EMT.

Development and validation of a high-throughput screening pipeline of compound libraries to target EMT.

Journal: Cell death and differentiation

Published: May 27, 2024

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Journal: Pediatric neurology

Published: March 10, 2024

MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency.

MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency.

Journal: Endocrinology, diabetes & metabolism case reports

Published: January 31, 2024

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.

Journal: BMC cancer

Published: June 20, 2023

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

Journal: Endocrine connections

Published: October 06, 2022

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

Journal: Human reproduction update

Published: September 30, 2022

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.

Journal: Frontiers in neurology

Published: August 04, 2022

Ascites in infantile onset type II Sialidosis.

Ascites in infantile onset type II Sialidosis.

Journal: JIMD reports

Published: February 25, 2022

EDIR: exome database of interspersed repeats.

EDIR: exome database of interspersed repeats.

Journal: Bioinformatics (Oxford, England)

Published: February 03, 2022

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.

Journal: Biology open

Published: August 04, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026