12 results on '"Antinolo, Guillermo"'
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2. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
3. High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain
4. Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W
5. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation
6. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus
7. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
8. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
9. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease
10. Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2
11. Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients
12. Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease
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