Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

by Ahmed N. Mohammad, Katelyn A. Bruno, S. Hines, Paldeep S. Atwal
Published 2018-06-01

A patient with single coronary artery, bicuspid aortic valve and sinus of Valsalva aneurysm

by Ahmed N. Mohammad, Oghenesuvwe Eboh, Muna Mian, Rony L. Shammas
Published 2021-03-01

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

by Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal
Published 2018-01-01

Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

by John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas Wierenga, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Published 2019-05-01

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

by Sarah K. Macklin, Katelyn A. Bruno, Charitha Vadlamudi, Haytham Helmi, Ayesha Samreen, Ahmed N. Mohammad, Stepahnie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Published 2020-01-01

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

by John E. Richter Jr., Charitha Vadlamudi, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldeep S. Atwal, Thomas R. Caulfield
Published 2020-01-01