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Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

Nucleic acids research, 2021-04, Vol.49 (6), p.3524

2021

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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BMC medical genetics, 2017-03, Vol.18 (1), p.33-33, Article 33

2017

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Osteogenic enhancement of modular ceramic nanocomposites impregnated with human dental pulp stem cells: an approach for bone repair and regenerative medicine

Journal of Genetic Engineering and Biotechnology, 2022-12, Vol.20 (1), p.123, Article 123

2022

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Annals of neurology, 2006-03, Vol.59 (3), p.527-534

2006

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Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients

Pediatric neurology, 2014-02, Vol.50 (2), p.140-148

2014

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Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration

Open access Macedonian journal of medical sciences, 2019-09, Vol.7 (17), p.2739-2750

2019

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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Annals of neurology, 2017-01, Vol.81 (1), p.68-78

2017

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Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex

eLife, 2019-12, Vol.8

2019

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Osteogenic Differentiation Potential of Human Bone Marrow and Amniotic Fluid-Derived Mesenchymal Stem Cells in Vitro & in Vivo

Open access Macedonian journal of medical sciences, 2019-02, Vol.7 (4), p.507-515

2019

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Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Proceedings of the National Academy of Sciences - PNAS, 2021-12, Vol.118 (51)

2021

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Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant

Neuromuscular disorders : NMD, 2020-06, Vol.30 (6), p.457-471

2020

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Osteogenic potential of human dental pulp-derived mesenchymal stem cells in bone regeneration of rabbit

Journal of the Arab Society for Medical Research, 2019-07, Vol.14 (2), p.102-112

2019

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Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

European journal of medical genetics, 2011-01, Vol.54 (1), p.82-85

2011

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Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

The Egyptian journal of medical human genetics, 2012-02, Vol.13 (1), p.19-27

2012

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Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

BMC research notes, 2014-10, Vol.7 (1), p.747-747, Article 747

2014

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Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy

Journal of neurology, 2008-03, Vol.255 (3), p.413-419

2008

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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1614-1617

2014

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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

Nature genetics, 2009-08, Vol.41 (9), p.1032-1036

2009

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Annals of neurology, 2006-01, Vol.59 (3), p.527-534

2006

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Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients

The Egyptian journal of medical human genetics, 2009-05, Vol.10 (1), p.13

2009

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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

American journal of medical genetics. Part A, 2014, Vol.164A (6), p.1614-1617

2014

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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

American journal of medical genetics. Part A, 2007-05, Vol.143A (9), p.939-944

2007

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Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Osteogenic enhancement of modular ceramic nanocomposites impregnated with human dental pulp stem cells: an approach for bone repair and regenerative medicine

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients

Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex

Osteogenic Differentiation Potential of Human Bone Marrow and Amniotic Fluid-Derived Mesenchymal Stem Cells in Vitro & in Vivo

Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant

Osteogenic potential of human dental pulp-derived mesenchymal stem cells in bone regeneration of rabbit

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

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