Faiyaz-Ul-Haque, Muhammad

Top Publications

Top Publications Authored or Co-Authored by "Faiyaz-Ul-Haque, Muhammad"

• Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

  OMICS A Journal of Integrative Biology, Volume 24, No. 3, Year 2020, Citations 25
• A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

  European Journal of Pediatrics, Volume 169, No. 6, Year 2010, Citations 18
• Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

  Annals of Saudi Medicine, Volume 34, No. 2, Year 2014, Citations 14
• Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

  Orphanet Journal of Rare Diseases, Volume 7, No. 1, Article 61, Year 2012, Citations 12
• Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome

  Journal of Cutaneous Pathology, Volume 49, No. 7, Year 2022, Citations 9