Majeed Al-Mateen

Mutations in 3 genes (<i>MKS3</i>, <i>CC2D2A</i> and <i>RPGRIP1L</i>) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, Melissa A. Parisi, Laura S. Finn et al. · Journal of Medical Genetics · 2009 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rett Syndrome

Majeed Al-Mateen · American journal of diseases of children · 1986 · 51 citations

Medicine, Neurology, Neuroscience +17

Role of positron emission tomography in determining the extent of CNS ischemia in patients with sickle cell disease

William Reed, William J. Jagust, Majeed Al-Mateen et al. · American Journal of Hematology · 1999 · 49 citations · Full text

Medicine, Neurology, Nuclear Medicine +16

Neuronal Intranuclear Inclusion Disease Without Polyglutamine Inclusions in a Child

Kathryn McFadden, Ronald L. Hamilton, Sam J. Insalaco et al. · Journal of Neuropathology & Experimental Neurology · 2005 · 41 citations · Full text

Medicine, Neurology, Pathology +17

Atypical childhood Wilson's disease

Martha Carlson, Majeed Al-Mateen, George J. Brewer · Pediatric Neurology · 2003 · 15 citations

Medicine, Neurology, Pediatrics +5