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WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

American journal of human genetics, 2013-04, Vol.92 (4), p.590-597

2013

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Professor Rabah Mohamed Shawky, 1943–2021

Egyptian Journal of Medical Human Genetics, 2021-08, Vol.22 (1), p.70, Article 70

Elsayed, Solaf M

2021

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Genetics in medicine, 2016-05, Vol.18 (5), p.483-493

2016

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Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Bone Reports, 2021-12, Vol.15, p.101106, Article 101106

2021

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.286-288

2014

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Skeletal radiology following hematopoietic stem cell transplantation in infantile osteopetrosis: an overlooked assessment tool

Boletín médico del Hospital Infantil de México, 2021, Vol.78 (5), p.495-496

2021

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Removal notice to “An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings” [Egypt J Med Hum Genet 18 (2017) 393–396]

The Egyptian journal of medical human genetics, 2018-10, Vol.19 (4), p.443-443

2018

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Cardiomyopathy in Vici syndrome

The Egyptian journal of medical human genetics, 2018-01, Vol.19 (1), p.49-50

2018

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Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

Egyptian Journal of Medical Human Genetics, 2024-07, Vol.25 (1), p.88, Article 88

2024

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients

BMC pediatrics, 2011-06, Vol.11 (1), p.56-56, Article 56

2011

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BH4 deficiency with unusual presentations: Challenges and lessons

The Egyptian journal of medical human genetics, 2016-07, Vol.17 (3), p.241-242

2016

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Subclinical hypothyroidism in children with Down syndrome: To treat or not to treat???

The Egyptian journal of medical human genetics, 2014-10, Vol.15 (4), p.407-408

Elsayed, Solaf M.

2014

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ALL-124 Outcome of Acute Leukemia in Down Syndrome: A Retrospective Experience of Ain Shams Pediatric Oncology Over a Decade

Clinical lymphoma, myeloma and leukemia, 2022-10, Vol.22, p.S194-S195

2022

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MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

JIMD reports, 2020-11, Vol.56 (1), p.20-26

2020

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Treatment options for patients with Gaucher disease

The Egyptian journal of medical human genetics, 2016-07, Vol.17 (3), p.281-285

2016

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The blessing effect of an extra copy of chromosome 21

The Egyptian journal of medical human genetics, 2014-04, Vol.15 (2), p.209-210

Elsayed, Solaf M.

2014

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Role of Plasma Amino Acids and Urinary Organic Acids in Diagnosis of Mitochondrial Diseases in Children

Pediatric neurology, 2014-12, Vol.51 (6), p.820-825

2014

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A case of infantile osteopetrosis: The radioclinical features with literature update

Bone Reports, 2016-06, Vol.4 (C), p.11-16

2016

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035

2022

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Inherited Thrombophilia in Pediatric Ischemic Stroke: An Egyptian Study

Pediatric neurology, 2012-08, Vol.47 (2), p.114-118

2012

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Neurofibromatosis type 1 and multiple sclerosis: Genetically related diseases

The Egyptian journal of medical human genetics, 2017-07, Vol.18 (3), p.295-298

2017

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Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Orphanet journal of rare diseases, 2011-04, Vol.6 (1), p.13-13, Article 13

2011

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Orthopaedic manifestations of Proteus syndrome in a child with literature update

Bone Reports, 2015-12, Vol.3 (C), p.104-108

2015

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Phenotype of apoptotic lymphocytes in children with Down syndrome

Immunity & ageing, 2009-03, Vol.6 (1), p.2-2, Article 2

2009

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WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Professor Rabah Mohamed Shawky, 1943–2021

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Skeletal radiology following hematopoietic stem cell transplantation in infantile osteopetrosis: an overlooked assessment tool

Removal notice to “An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings” [Egypt J Med Hum Genet 18 (2017) 393–396]

Cardiomyopathy in Vici syndrome

Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients

BH4 deficiency with unusual presentations: Challenges and lessons

Subclinical hypothyroidism in children with Down syndrome: To treat or not to treat???

ALL-124 Outcome of Acute Leukemia in Down Syndrome: A Retrospective Experience of Ain Shams Pediatric Oncology Over a Decade

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

Treatment options for patients with Gaucher disease

The blessing effect of an extra copy of chromosome 21

Role of Plasma Amino Acids and Urinary Organic Acids in Diagnosis of Mitochondrial Diseases in Children

A case of infantile osteopetrosis: The radioclinical features with literature update

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Inherited Thrombophilia in Pediatric Ischemic Stroke: An Egyptian Study

Neurofibromatosis type 1 and multiple sclerosis: Genetically related diseases

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Orthopaedic manifestations of Proteus syndrome in a child with literature update

Phenotype of apoptotic lymphocytes in children with Down syndrome

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