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1. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

3. Perfil neuropsicológico de paciente con lesión frontoparietal por meningioma atípico grado II recidivante.

4. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

5. Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

6. Macrocephaly and developmental delay caused by missense variants in RAB5C

7. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

8. Macrocephaly and developmental delay caused by missense variants in RAB5C

10. Identification of human D lactate dehydrogenase deficiency

11. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

12. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

13. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

14. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

15. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy

16. Recurrent respiratory syncytial virus infection in a CD14 deficient patient

17. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy

18. Recurrent Respiratory Syncytial Virus Infection in a CD14-Deficient Patient

19. HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

20. MKS1 regulates ciliary INPP5E levels in Joubert syndrome

21. Supplement to: Monocarboxylate transporter type 1 deficiency and ketone utilization

22. Estudio creación de una empresa sostenible y socialmente responsable para el curtido, pintado y terminado de cuero en Bucaramanga y su Área Metropolitana

23. Working memory in school-aged children: Exhibition intervals and distracters effects in Memonum computerized test/Memoria de trabajo en ninos escolarizados: efecto de intervalos de presentacion y distractores en la prueba computarizada Memonum/Memoria de trabalho em criancas em idade escolar: Efeitos de intervalos de apresentacao e distracao no teste computadorizado Memonum

24. Viviendas de Interés Social y Prioritario sostenible, entornos solidarios de expansión en Cúcuta

25. In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors

26. Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

27. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

28. In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors

29. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

32. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

34. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

36. Identification of human D lactate dehydrogenase deficiency

37. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

38. Identification of human D lactate dehydrogenase deficiency

39. Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents

40. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

41. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

45. Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency

46. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

48. Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency

49. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

50. Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

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