211 results on '"Ibrahim, Niema"'
Search Results
2. The morbid genome of ciliopathies: an update
3. A genomics approach to females with infertility and recurrent pregnancy loss
4. CNP deficiency causes severe hypomyelinating leukodystrophy in humans
5. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
6. Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency
7. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
8. Autozygome and high throughput confirmation of disease genes candidacy
9. Genomic and phenotypic delineation of congenital microcephaly
10. Expanding the phenome and variome of skeletal dysplasia
11. Molecular autopsy in maternal–fetal medicine
12. Congenital glaucoma and CYP1B1: an old story revisited
13. NUP214 deficiency causes severe encephalopathy and microcephaly in humans
14. GWAS signals revisited using human knockouts
15. Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
16. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy
17. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
18. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
19. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
20. Correction to: Expanding the genetic heterogeneity of intellectual disability
21. Expanding the genetic heterogeneity of intellectual disability
22. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
23. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
24. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder
25. The morbid genome of ciliopathies: an update
26. Confirming the candidacy of THOC6 in the etiology of intellectual disability
27. Identification of a novel MKS locus defined by TMEM107 mutation
28. Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
29. Study of Mendelian forms of Crohnʼs disease in Saudi Arabia reveals novel risk loci and alleles
30. A de novo mutation in FMR1 in a patient with intellectual disability
31. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
32. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
33. An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia
34. Front Cover
35. Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome
36. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
37. Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2
38. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
39. Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
40. The many faces of peroxisomal disorders: Lessons from a large Arab cohort
41. Congenital glaucoma and CYP1B1: an old story revisited
42. Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
43. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
44. A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation
45. The genetic landscape of familial congenital hydrocephalus
46. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
47. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition
48. Neuronal deficiency ofARV1causes an autosomal recessive epileptic encephalopathy
49. Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly
50. The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
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