49 results on '"Abdel-Hamid, Mohamed"'
Search Results
2. Delineating the phenotype of PNPLA8‐related mitochondriopathies
3. A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
4. CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
5. Clinical and molecular spectrum of a large Egyptian cohort withALS2‐related disorders of infantile‐onset of clinical continuum IAHSP / JPLS
6. Phenotypic continuum ofNFU1‐related disorders
7. Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
8. Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations
9. Carbon quantum dots as a sensitive fluorescent probe for quantitation of pregabalin; application to real samples and content uniformity test
10. Expanding the phenotypic and allelic spectrum ofSMG8: Clinical observations reveal overlap withSMG9 ‐associated disease trait
11. Study of changes of obesity‐related inflammatory cytokines after laparoscopic sleeve gastrectomy
12. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development
13. Radiological evaluations of low cost wollastonite nano‐ceramics graft doped with iron oxide in the treatment of induced defects in canine mandible
14. Efficacy of Flat‐Top Hand‐Piece Using 980 nm Diode Laser Photobiomodulation on Socket Healing after Extraction: Split‐Mouth Experimental Model in Dogs
15. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
16. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
17. Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
18. ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
19. A fast and green reversed‐phase HPLC method with fluorescence detection for simultaneous determination of amlodipine and celecoxib in their newly approved fixed‐dose combination tablets
20. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
21. KBG syndrome in two patients from Egypt
22. Second‐derivative synchronous spectrofluorimetric assay of dapagliflozin: Application to stability study and pharmaceutical preparation
23. Lenz–Majewski syndrome in a patient from Egypt
24. New spectrofluorimetric analysis of dapagliflozin after derivatization with NBD‐Cl in human plasma using factorial design experiments
25. Phenotypic spectrum ofNDE1‐related disorders: from microlissencephaly to microhydranencephaly
26. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
27. Phenotypic and molecular insights into PQBP1 -related intellectual disability
28. Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2
29. Molecular and phenotypic spectrum ofASPM-related primary microcephaly: Identification of eight novel mutations
30. PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive
31. De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder
32. Occult hepatitis C virus infection among Egyptian hemodialysis patients
33. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation inRNU4ATAC
34. Polymorphisms at IL28B gene as predictors of viral relapse in genotype 4 Egyptian hepatitis C patients
35. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations
36. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype
37. Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1
38. Hepatitis C virus acquisition among Egyptians: analysis of a 10-year surveillance of acute hepatitis C
39. Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I
40. Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome
41. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
42. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
43. Is the hepatitis C virus epidemic over in Egypt? Incidence and risk factors of new hepatitis C virus infections
44. Response to pegylated interferon alfa-2a and ribavirin in chronic hepatitis C genotype 4
45. Prospective cohort study of mother-to-infant infection and clearance of hepatitis C in rural Egyptian villages
46. Predictors of a sustained virological response in patients with genotype 4 chronic hepatitis C
47. HCV‐related morbidity in a rural community of Egypt
48. Enrichment of low molecular weight fraction of serum for MS analysis of peptides associated with hepatocellular carcinoma
49. Charge-Transfer-Komplexe, 2. Mitt. Molekülkomplexe und Radikalbildung von Arzneimitteln mit Imidazolinteilstrukturen
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