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A note of thanks

Egyptian Journal of Medical Human Genetics, 2021-12, Vol.22 (1), p.92, Article 92

Elsayed, Solaf

2021

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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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Are we missing fucosidosis?

The Egyptian journal of medical human genetics, 2018-04, Vol.19 (2), p.151-152

Elsayed, Solaf

2018

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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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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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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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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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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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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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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63533-n/a

2024

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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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Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency

The journal of clinical endocrinology and metabolism, 2016-07, Vol.101 (7), p.2892-2904

2016

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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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Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Orphanet journal of rare diseases, 2010-12, Vol.5 (1), p.33-33, Article 33

2010

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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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Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome

Expert review of hematology, 2024-05, Vol.17 (4-5), p.153-163

2024

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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Human molecular genetics, 2015-05, Vol.24 (9), p.2594-2603

2015

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An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings

The Egyptian journal of medical human genetics, 2017-10, Vol.18 (4), p.393

2017

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Extra-hepatic portal vein thrombosis in children: single center experience

Clinical and Experimental Hepatology, 2023-03, Vol.9 (1), p.37-45

2023

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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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Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

Neuropsychiatric disease and treatment, 2018-01, Vol.14, p.1715-1720

2018

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Another Chanarin-Dorfman Syndrome (CDS) in an Egyptian Patient

QJM : An International Journal of Medicine, 2023-08, Vol.116 (Supplement_1)

2023

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A note of thanks

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

Professor Rabah Mohamed Shawky, 1943–2021

Are we missing fucosidosis?

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

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

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

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

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

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

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

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]

Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency

Cardiomyopathy in Vici syndrome

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene

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

Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings

Extra-hepatic portal vein thrombosis in children: single center experience

BH4 deficiency with unusual presentations: Challenges and lessons

Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

Another Chanarin-Dorfman Syndrome (CDS) in an Egyptian Patient

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