338 results on '"Abdel‐Hamid, Mohamed S."'
Search Results
2. New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
3. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
4. Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS
5. A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
6. Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
7. A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara’s disease)
8. Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption
9. Expanding the phenotypic spectrum and clinical severity associated with WLS gene
10. An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies
11. Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
12. Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing
13. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
14. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
15. Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations
16. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
17. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
18. A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia
19. Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
20. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
21. Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect
22. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
23. Clinical and molecular characterization of Unverricht–Lundborg disease among Egyptian patients
24. Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
25. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
26. Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature
27. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
28. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
29. A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
30. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
31. Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome
32. Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
33. A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management
34. Delineating the phenotype of PNPLA8‐related mitochondriopathies
35. Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability
36. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
37. Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome.
38. Delineating the phenotype of PNPLA8‐related mitochondriopathies.
39. A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
40. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
41. A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
42. CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
43. Clinical and molecular spectrum of a large Egyptian cohort withALS2‐related disorders of infantile‐onset of clinical continuum IAHSP / JPLS
44. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
45. A missense variant in EXOSC8causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
46. Novel homozygous ESAMvariants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
47. Screening for TSEN54Variants in Egyptian Patients with Pontocerebellar Malformations
48. X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
49. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
50. Aicardi-Goutières syndrome: unusual neuro-radiological manifestations
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