L.I. Al-Gazali
Publications by Year
Research Areas
Connective tissue disorders research, Genetic Syndromes and Imprinting, Metabolism and Genetic Disorders, Genomics and Rare Diseases, Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux(2004)364 cited
- → Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development(2007)228 cited
- → Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome(2004)184 cited
- → The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.(1995)124 cited
- → Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?(1992)121 cited
- → A study of possible deleterious effects of consanguinity(1997)104 cited
- → Identification of CANT1 Mutations in Desbuquois Dysplasia(2009)104 cited
- → FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome(2009)90 cited
- → Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect(2001)85 cited
- → Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome(2010)71 cited