Mariam Ballow

Targeted <i>SLC19A3</i> gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Majid Alfadhel, Muhammad Umair, Bader Almuzzaini et al. · Annals of Clinical and Translational Neurology · 2019 · 65 citations · Full text

<scp><i>EMC10</i></scp> homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

Muhammad Umair, Mariam Ballow, Abdulaziz Asiri et al. · Clinical Genetics · 2020 · 39 citations · Full text

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

Mohammad M. Al‐Qattan, Ibrahim AlAbdulkareem, Mariam Ballow et al. · Gene · 2013 · 13 citations

Schinzel Phocomelia Syndrome, Al-awadi Raas-rothschild Syndrome, Pathology +2

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Abdulaziz Asiri, Deemah Alwadaani, Muhammad Umair et al. · Genes · 2021 · 12 citations · Full text