Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

مزيد من المنشورات

Impact of N-linked glycans on the dual short fibulin/LTBP-4 axes regulating elastogenesis

بواسطة Valentin Nelea, Heena Kumra, Chae Syng Lee, Daniel Williamson, Hana Hakami, Rong-Mo Zhang, Neha E H Dinesh, Robert Haltiwanger, Dieter P Reinhardt

2025

Fibulin-4 and latent-transforming growth factor beta-binding protein-4 interactions with syndecan-2 and syndecan-3 are required for elastogenesis

بواسطة Hana Hakami, Neha E H Dinesh, Valentin Nelea, Nathalie Lamarche-Vane, Sylvie Ricard-Blum, Dieter P Reinhardt

2025

The common pentanucleotide polymorphism of the 3’-untranslated region of the leptin receptor gene is associated with obesity in Saudi females

بواسطة Maha H. Daghestani, Mazin H. Daghestani, Pinar T. Ozand, Ahmed R. Al-Himaidi, Mamoon H. Daghestani, Nadia A. Aleisa, Hana H. Hakami, Abdelmoneim Eldali, Ali N. Al-odaib

2013

هناء حكمي

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay