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28 results on '"V. Nigro"'

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1. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

2. Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

3. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

4. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

5. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

6. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

7. De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.

8. Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.

9. Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

10. A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

11. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

12. Genotype-phenotype correlations in recessive titinopathies.

13. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

15. A Steady-State Head-to-Head Pharmacokinetic Comparison of All FK-506 (Tacrolimus) Formulations (ASTCOFF): An Open-Label, Prospective, Randomized, Two-Arm, Three-Period Crossover Study.

16. Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.

17. One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

18. The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function.

19. Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein).

21. Prostaglandin E2 induction of binding activity to CRE and AP-2 elements in human T lymphocytes.

22. Retinoic acid induces stage-specific antero-posterior transformation of rostral central nervous system.

23. Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor.

24. Purified estrogen receptor enhances in vitro transcription.

25. Differential regulation by retinoic acid of the homeobox genes of the four HOX loci in human embryonal carcinoma cells.

26. An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus.

27. Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus.

28. Particulate nature of the unoccupied uterine estrogen receptor.

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