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28 results on '"López-Martín, Estrella"'

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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like Syndrome

3. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

5. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

6. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

7. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

8. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

9. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

10. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

11. The RD-connect genome-phenome analysis platform: accelerating diagnosis, research, and gene discovery for rare diseases

12. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

13. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

15. DEMOCOPHES España y su contribución a la armonización de la biovigilancia humana en Europa

16. Involvement of NMDA receptor in the modulation of excitatory and inhibitory amino acid neurotransmitters release in cortical neurons

17. Proposals for the National Environmental Health Action Plan

18. Cadmium induces reactive oxygen species generation and lipid peroxidation in cortical neurons in culture

19. SNAP, a NO donor, induces cellular protection only when cortical neurons are submitted to some aggression process

20. Expression and functional properties of group I metabotropic glutamate receptors in bovine chromaffin cells

21. Apoptosis and necrosis: two distinct events induced by cadmium in cortical neurons in culture

22. Nicotinic receptors mediate the release of amino acid neurotransmitters in cultured cortical neurons

23. Calcium channel types involved in intrinsic amino acid neurotransmitters release evoked by depolarizing agents in cortical neurons

24. DEMOCOPHES España y su contribución a la armonización de la biovigilancia humana en Europa.

25. Mechanism by which GABA, through its GABA(A) receptor, modulates glutamate release from rat cortical neurons in culture

27. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

28. [DEMOCOPHES SPAIN AND ITS CONTRIBUTION TO THE HARMONIZATION OF EUROPEAN HUMAN BIOMONITORING].

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