Search Results - "Mohamed Abdel-Hamid Mohamed"
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1
Cost optimization of sewage pipelines inspection
Published in Ain Shams Engineering Journal (01-05-2023)“…Sewage pipelines are considered to be the invaluable asset in municipalities. Inspection process plays a vital role in operation and maintenance (O&M)…”
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2
Early application of haemostatic powder added to standard management for oesophagogastric variceal bleeding: a randomised trial
Published in Gut (01-05-2019)“…Acute variceal bleeding (AVB) requires early therapeutic management by experienced endoscopists that often poses logistical challenges for hospitals. We…”
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3
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
Published in Clinical genetics (01-09-2023)“…Biallelic variants in PPIL1 have been recently found to cause a very rare type of pontocerebellar hypoplasia and congenital microcephaly in which simplified…”
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4
Biphasic calcium phosphate doped with zirconia nanoparticles for reconstruction of induced mandibular defects in dogs: cone-beam computed tomographic and histopathologic evaluation
Published in Journal of materials science. Materials in medicine (19-05-2023)“…The present study aimed to evaluate osteogenic potential and biocompatibility of combining biphasic calcium phosphate with zirconia nanoparticles (4Zr TCP/HA)…”
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5
Evaluation of Pesticide Residues in Vegetables from the Asir Region, Saudi Arabia
Published in Molecules (Basel, Switzerland) (03-01-2020)“…This study's aim was to determine the pesticide residues in 10 different vegetable commodities from the Asir region, Saudi Arabia. We evaluated 211 vegetable…”
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6
Delineating the phenotype of PNPLA8‐related mitochondriopathies
Published in Clinical genetics (01-01-2024)“…Pathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and…”
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7
Outcomes of hip arthroscopy for femoroacetabular impingement: The effect of morphological type and chondrolabral damage
Published in SICOT-J (2019)“…Hip arthroscopy for treatment of femoroacetabular impingement (FAI) has shown significant pain and functional improvement. However, the differential outcome of…”
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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management
Published in American journal of medical genetics. Part A (01-01-2024)“…Abnormal hyperpolarization of the KCNK4 gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter…”
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS
Published in Clinical genetics (01-08-2023)“…This study presents 46 patients from 23 unrelated Egyptian families with ALS2‐related disorders without evidence of lower motor neuron involvement. Age at…”
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10
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome
Published in American journal of medical genetics. Part A (01-02-2024)“…Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) and PEHO‐like syndromes are very rare infantile disorders characterized by…”
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11
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
Published in American journal of medical genetics. Part A (01-06-2022)“…Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in…”
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12
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
Published in Clinical genetics (01-05-2024)“…Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with…”
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13
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
Published in Clinical genetics (01-11-2020)“…Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We…”
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14
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
Published in American journal of medical genetics. Part A (01-08-2023)“…Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho‐scoliosis, platyspondyly,…”
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15
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis
Published in Sexual development (01-02-2023)“…Disorders of gonadal development represent a clinically and genetically heterogeneous group of DSD, and the etiology in many cases remains unknown, indicating…”
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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development
Published in American journal of medical genetics. Part A (01-06-2021)“…Disorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine…”
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17
Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing
Published in Archives of oral biology (01-02-2024)“…describing the clinical features of twelve Egyptian patients with Papillon-Lefever syndrome (PLS). Five novel mutations in the cathepsin C (CTSC) gene are…”
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18
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait
Published in American journal of medical genetics. Part A (01-02-2022)“…SMG8 (MIM *617315) is a regulatory subunit involved in nonsense‐mediated mRNA decay (NMD), a cellular protective pathway that regulates mRNA transcription,…”
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19
Immuno-histopathologic evaluation of mineralized plasmatic matrix in the management of horizontal ridge defects in a canine model (a split-mouth comparative study)
Published in Odontology (01-07-2022)“…[Abstract] Our research aimed to investigate the effect of combining biphasic calcium phosphate (BCP) alloplast with mineralized plasmatic matrix (MPM) as…”
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20
KBG syndrome in two patients from Egypt
Published in American journal of medical genetics. Part A (01-06-2020)“…KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It…”
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