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1. Further delineation of the SCAF4-associated neurodevelopmental disorder

2. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

4. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

5. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

6. Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

7. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

8. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

9. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

10. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

11. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

12. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

13. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

14. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

15. Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome

17. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

18. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

19. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

21. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

22. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

23. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

24. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

25. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

26. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

27. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

28. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

29. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

30. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

31. Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

32. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

33. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

34. Biallelic pathogenic variants in the lanosterol synthase gene LSSinvolved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

35. Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

36. Parallel derivation of isogenic human primed and naive induced pluripotent stem cells.

37. Loss-of-function variants in SRRM2cause a neurodevelopmental disorder

38. Rare pathogenic variants in WNK3cause X-linked intellectual disability

39. De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

40. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

41. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

42. [Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction].

43. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

44. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

45. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

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