13 results on '"Goossens M"'
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2. Frequency of the cystic fibrosis ΔF508 mutation in a large sample of the French population
3. The peculiar spectrum of β-thalassemia genes in Tunisia
4. Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1
5. Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population
6. Germline mosaicism for an alanine to valine substitution at residue ? 140 in hemoglobin Puttelange, a new variant with high oxygen affinity
7. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
8. A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
9. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
10. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
11. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
12. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
13. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.
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