561 results on '"Faqeih, Eissa"'
Search Results
2. Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
3. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
4. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
5. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
6. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
7. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
8. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
9. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
10. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
11. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
12. Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.
13. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
14. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
15. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
16. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
17. ZNF668 deficiency causes a recognizable disorder of DNA damage repair
18. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
19. Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
20. Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.
21. The phenotypic spectrum of PTCD3 deficiency.
22. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
23. The phenotypic spectrum of PTCD3 deficiency
24. Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
25. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
26. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
27. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
28. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
29. Genomic and phenotypic delineation of congenital microcephaly
30. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
31. Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder
32. CffDNA screening for Niemann-pick disease, type C1: a case series.
33. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
34. Expanding the phenome and variome of skeletal dysplasia
35. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
36. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
37. Molecular autopsy in maternal–fetal medicine
38. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
39. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
40. Non-invasive prenatal testing: a revolutionary journey in prenatal testing
41. Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
42. A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype
43. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
44. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy
45. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
46. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
47. DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification
48. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
49. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
50. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
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