Brian Beedham-Sperelakis
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Scoping review on the embryonic developmental potential of tripronuclear zygotes and their use for clinical and research purposes.
Journal: Journal of assisted reproduction and genetics
Published: October 22, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Journal: European journal of human genetics : EJHG
Published: May 15, 2024
What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
Journal: Human reproduction (Oxford, England)
Published: November 10, 2023
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: May 29, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Journal: Prenatal diagnosis
Published: December 14, 2022
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: September 22, 2022
Genetics of complex and syndromic palmoplantar keratoderma
Journal: Annales de biologie clinique
Published: December 28, 2021
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Journal: Molecular genetics and metabolism
Published: October 13, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026