30 results on '"Gal, Andreas"'
Search Results
2. The Mutation p.Ser298Pro in the Sulphamidase Gene (SGSH) is Associated with a Slowly Progressive Clinical Phenotype in Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome)
3. A Novel Mutation in AlphaA-crystallin (CRYAA) Caused Autosomal Dominant Congenital Cataract in a Large Chinese Family
4. p.Gln200Glu, a Putative Constitutively Active Mutant of Rod α-Transducin (GNAT1) in Autosomal Dominant Congenital Stationary Night Blindness
5. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
6. Seventeen novelPLP1mutations in patients with Pelizaeus-Merzbacher disease
7. Intronic mutations in theL1CAMgene may cause X-linked hydrocephalus by aberrant splicing
8. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
9. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
10. Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons
11. Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes
12. Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D
13. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
14. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
15. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1
16. Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
17. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
18. A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome
19. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
20. Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications
21. Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene
22. Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy
23. Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)
24. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa
25. Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 ( ALD) genes.
26. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
27. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity.
28. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
29. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
30. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
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