25 results on '"Antinolo, Guillermo"'
Search Results
2. Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus
3. Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review
4. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
5. EYS Is a Major Gene for Rod-cone Dystrophies in France
6. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
7. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
8. Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: A hospital-based case-control study
9. High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain
10. Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W
11. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation
12. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus
13. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male
14. Preimplantation genetic diagnosis in Europe: legal and ethical challenges for national and international regulation
15. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
16. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
17. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
18. The RET IVS1-126G>T Variant Is Strongly Associated with the Development of Sporadic Medullary Thyroid Cancer
19. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
20. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease
21. Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy
22. Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2
23. The RETIVS1-126G>T Variant Is Strongly Associated with the Development of Sporadic Medullary Thyroid Cancer
24. 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
25. 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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