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- Huntingtin-associated protein 1 interacts with Ahi1 to regulate...
Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal... - 24-dehydrocholesterol reductase
...al.'' |title=Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol... - Uncombable Hair Syndrome
Both inherited (autosomal dominant and recessive with variable levels of penetrance) and sporadic forms of uncombable hair syndrome have... - Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an...
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene... - Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes...
...the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy. - Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long...
Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement. - Autosomal recessive acro-fronto-facio-nasal dysostosis associated...
Normal chromosomes and parents' consanguinity are suggestive of autosomal recessive inheritance. - Pathways of apoptosis in human autosomal recessive and autosomal
Related Articles Pathways of apoptosis in human autosomal recessive and autosomal dominant polycystic kidney diseases. Pediatr Nephrol. - Anesthetic management of a woman with autosomal recessive...
MedWorm Sponsored Message: Find out how you can get your message across here by sponsoring this MedWorm news feed. - A further example of a distinctive autosomal recessive syndrome...
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder