Publications by authors named "Aakash Joshi"

Claim this Profile
K
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Amber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir, Aakash Joshi

Hum Mol Genet· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic heterogeneity in -related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.
Nikhil Pattani, Nour Elkhateeb, Aakash Joshi, Juan Carlos Del Rey Jimenez, Joy L Barber

J Med Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.
Nic Robertson, Aakash Joshi, Francesca Ritchie, Ina Schim van der Loeff, David Royan

Eur J Immunol· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Q
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Avinaash V Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi

Nat Commun· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Aakash Joshi

Genet Med· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis