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l -Glutaric Acidemia: Investigation of a Patient and His Family Journal Articles - An Antithrombin III Assay Based on Factor Xa Inhibition Provides a More Reliable Test to Identify Congenital Antithrombin III Deficiency Than an Assay Based on Thrombin Inhibition Journal Articles
- Effects of consanguinity, exposure to pregnant females, and stimulation from young on male gerbils' responses to pups Journal Articles
- Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin Journal Articles
- Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia Journal Articles
- Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia Journal Articles
- Obesity genetics: insights from the Pakistani population Journal Articles
- Poland anomaly and hydranencephaly: An unusual association Journal Articles
- Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Journal Articles
- Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly” Journal Articles
- Spectrum of β-Thalassemia Mutations in Egypt Journal Articles
- Two cases of congenital myasthenic syndrome with vocal cord paralysis Journal Articles
- Vialetto-Van Laere syndrome in two sisters born to consanguineous parents Journal Articles
- Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum Journal Articles
- Wilson's disease presenting as Heinz-body hemolytic anemia. Journal Articles