Shazia Maqbool

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 46 citations · Full text

Genetics, Biallelic Hpdl Variants, Pathology +20

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio et al. · The American Journal of Human Genetics · 2020 · 39 citations · Full text

Neurodevelopmental Syndrome, Cerebellar Atrophy, Developmental Biology +10

Is integrated private-clinic based early child development care effective? A clustered randomised trial in Pakistan

Muhammad Amir Khan, Syeda Somyyah Owais, Shazia Maqbool et al. · BJGP Open · 2018 · 34 citations · Full text

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Evin M. Padhi, Tristan J. Hayeck, Cheng Zhang et al. · Human Genomics · 2021 · 33 citations · Full text

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

Lore Pottie, Christin S. Adamo, Aude Beyens et al. · The American Journal of Human Genetics · 2021 · 31 citations · Full text

Allelic Variant, Translational Biology, Genetic Disorder +9