9 results on '"Antinolo, Guillermo"'
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2. Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W
3. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation
4. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus
5. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
6. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease
7. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
8. Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2
9. 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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