413 results on '"Alhashem, Amal"'
Search Results
2. Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
3. Arab founder variants: Contributions to clinical genomics and precision medicine
4. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
5. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
6. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
7. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
8. Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
9. Mitochondrial “dysmorphology” in variant classification
10. The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
11. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
12. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
13. Hypospadias in ring X syndrome
14. ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.
15. Loss- of- function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
16. The morbid genome of ciliopathies: an update
17. Prenatal Diagnosis of c.437–1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case
18. A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
19. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
20. A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis
21. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
22. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
23. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
24. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
25. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
26. ACLASP1variant suggests a phenotypic relation with lissencephaly in humans
27. A founder variant expands the phenotype of WNT7B‐related PDAC syndrome
28. Autozygome and high throughput confirmation of disease genes candidacy
29. Genomic and phenotypic delineation of congenital microcephaly
30. Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.
31. Expanding the phenome and variome of skeletal dysplasia
32. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
33. Molecular autopsy in maternal–fetal medicine
34. MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
35. Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review
36. SAT226 A Case Of Congenital Hypopituitarasim Has The Genetic And Phenotypic Features Of Orofacial Syndrome
37. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
38. Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement
39. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
40. Further Delineation of the ALG9-CDG Phenotype
41. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
42. Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy
43. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
44. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
45. Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
46. Correction to: Expanding the genetic heterogeneity of intellectual disability
47. Expanding the genetic heterogeneity of intellectual disability
48. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
49. Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions
50. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
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