188 results on '"Lakhani, Saquib A."'
Search Results
2. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
3. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
4. AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
5. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
6. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
7. Expansion of NEUROD2 phenotypes to include developmental delay without seizures
8. Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation
9. Functional testing for variant prioritization in a family with long QT syndrome
10. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
11. A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome
12. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
13. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
14. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
15. Data Science for Child Health
16. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses
17. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
18. Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis
19. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review
20. Comparison of Transferred Versus Nontransferred Pediatric Patients Admitted for Sepsis
21. A Novel Variant in the Cyto-Tail of SMOGene Underlying Isolated Postaxial Polydactyly
22. Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome
23. Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective
24. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
25. Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families.
26. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
27. A retrospective cohort analysis of the Yale pediatric genomics discovery program
28. Altered mental status and vulvar ulcer in a 10‐year‐old girl
29. JNK Expression by Macrophages Promotes Obesity-Induced Insulin Resistance and Inflammation
30. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
31. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects
32. Examination of Early Endotracheal Aspirate Cultures in Children with Acute Respiratory Failure Due to Presumed Acute Respiratory Tract Infection.
33. The latest FADS : Functional analysis ofGLDNpatient variants and classification ofGLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
34. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
35. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
36. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
37. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
38. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
39. A crucial role of caspase-3 in osteogenic differentiation of bone marrow stromal stem cells
40. Caspases and T lymphocytes: a flip of the coin?
41. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
42. Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
43. Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome
44. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
45. Human autoinflammatory disease reveals ELF4as a transcriptional regulator of inflammation
46. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
47. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
48. Safety and Utility of Continuous Ketamine Infusion for Sedation in Mechanically Ventilated Pediatric Patients
49. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
50. Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation
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