Najwa Anwar

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Bi-allelic premature truncating variants in LTBP1 cause 1 autosomal recessive cutis laxa syndrome

Christin, Adamo, F. Alkuraya, 2021 .

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

N. Guex, J. Chrast, A. Reymond, 2020, Journal of Medical Genetics.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.