Bushra Afroze

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi et al. · American Journal of Medical Genetics Part A · 2010 · 80 citations

Principal Diagnostic Features, Developmental Anomaly, Larsen Syndrome +15

Impact of the Singapore National Asthma Program (SNAP) on preventor-reliever prescription ratio in polyclinics.

Bushra Afroze, Khadija Nuzhat Humayun, Maqbool Qadir · PubMed · 2008 · 48 citations

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Min Ni, Bushra Afroze, Chao Xing et al. · Genetics in Medicine · 2021 · 29 citations · Full text

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

Bushra Afroze, Zabedah Md Yunus, Beat Steinmann et al. · European Journal of Pediatrics · 2013 · 27 citations

Metabolic Syndrome, Metabolic Disorder, Biochemistry +9