Search

Your search keyword '"Zahir, Farah"' showing total 117 results

Search Constraints

Start Over You searched for: Author "Zahir, Farah" Remove constraint Author: "Zahir, Farah"
117 results on '"Zahir, Farah"'

Search Results

3. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

10. A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.

12. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

15. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

22. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

26. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

31. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

32. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

33. Additional file 5: Supplementary Figures. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

34. Additional file 1: of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

35. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

36. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

39. India : why fiscal adjustment now

40. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

44. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

46. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

47. Mutations in NGLY1cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

48. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

49. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Catalog

Books, media, physical & digital resources