22 results on '"Al-Saif, Amr"'
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2. Gene therapy of hematological disorders: current challenges
3. Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2
4. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
5. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
6. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
7. A Mutation in Sigma–1 Receptor Causes Juvenile Amyotrophic Lateral Sclerosis
8. Missense Mutations in the Sodium Borate Cotransporter SLC4A11 Cause Late-Onset Fuchs Corneal Dystrophy
9. A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype
10. Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2
11. Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b
12. Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
13. Loss ofERLIN2function leads to juvenile primary lateral sclerosis
14. Propionic Acidemia Associated With Visual Hallucinations
15. Age-Severity Relationships in Families Linked toFCD2with Retroillumination Photography
16. Linkage of a Mild Late-Onset Phenotype of Fuchs Corneal Dystrophy to a Novel Locus at 5q33.1-q35.2
17. Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b
18. Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
19. Propionic Acidemia Associated With Visual Hallucinations.
20. Erratum.
21. Age-severity relationships in families linked to FCD2 with retroillumination photography.
22. A novel KERA mutation associated with autosomal recessive cornea plana.
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