Publications by authors named "B Delobel"

Claim this Profile
R
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Bruno Delobel

J Med Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Bruno Delobel

J Med Genet· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, Mélanie Rama, Caroline Thuillier, Bruno Delobel

Eur J Med Genet· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Fang Yang, Anais Begemann, Nadine Reichhart, Akvile Haeckel, Katharina Steindl, Bruno Delobel

Am J Hum Genet· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Growth charts in DYRK1A syndrome.
Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Bruno Delobel

Am J Med Genet A· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis