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143 results on '"Elloumi, Houda"'

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2. Further delineation of the SCAF4-associated neurodevelopmental disorder

3. Novel variants in the SOX11 gene: clinical description of seven new patients

4. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

5. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

6. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

7. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

8. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

9. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

10. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

11. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

12. Chromatin assembly factor subunit CHAF1Aas a monogenic cause for oculo-auriculo-vertebral spectrum

13. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

14. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants

15. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

16. Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

17. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

18. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants

19. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.

22. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

23. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

24. Phenotypic continuum ofNFU1‐related disorders

25. Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

26. The commercial genetic testing landscape for Parkinson's disease

27. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

28. The commercial genetic testing landscape for Parkinson's disease

30. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

31. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

32. Impaired [T.sub.H]17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

34. Early-onset phenotype of bi-allelic GRN mutations

35. EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum

39. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

40. STAT3 Mutations in the Hyper-IgE Syndrome

43. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

44. Biallelic variants in KARS1are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

45. Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum

46. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

49. NFIL3 Is a Regulator of IL-12 p40 in Macrophages and Mucosal Immunity

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