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Molecular and Cellular Pediatrics
|
October 1, 2025
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt
Mervat A M Youssef, Solaf M Elsayed, Khalid I Elsayh, et al.
Pediatric Neurology
|
December 3, 2014
Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children
Hamed M Shatla, Hoda Y Tomoum, Solaf M Elsayed, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
June 7, 2016
Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients
Tawhida Y Abdel Ghaffar, Solaf M Elsayed, Mohamed A Sakr, et al.
JIMD Reports
|
November 18, 2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, et al.
European Journal of Human Genetics : EJHG
|
July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
Solaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 5, 2016
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency
Laurence Salle-Teyssières, Martine Auclair, Faraj Terro, et al.
Expert Review of Hematology
|
April 10, 2024
Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome
Azza A Tantawy, Nayera H K Elsherif, Solaf M Elsayed, et al.
Pediatric Neurology
|
July 5, 2012
Inherited thrombophilia in pediatric ischemic stroke: an Egyptian study
Hamed M Shatla, Hoda Y Tomoum, Solaf M Elsayed, et al.
American Journal of Human Genetics
|
March 19, 2013
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
Shawna M Pyott, Thao T Tran, Dru F Leistritz, et al.
Human Molecular Genetics
|
January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Solaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
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Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Molecular and Cellular Pediatrics
|
October 1, 2025
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt
Mervat A M Youssef, Solaf M Elsayed, Khalid I Elsayh, et al.
Pediatric Neurology
|
December 3, 2014
Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children
Hamed M Shatla, Hoda Y Tomoum, Solaf M Elsayed, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
June 7, 2016
Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients
Tawhida Y Abdel Ghaffar, Solaf M Elsayed, Mohamed A Sakr, et al.
JIMD Reports
|
November 18, 2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, et al.
European Journal of Human Genetics : EJHG
|
July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
Solaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 5, 2016
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency
Laurence Salle-Teyssières, Martine Auclair, Faraj Terro, et al.
Expert Review of Hematology
|
April 10, 2024
Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome
Azza A Tantawy, Nayera H K Elsherif, Solaf M Elsayed, et al.
Pediatric Neurology
|
July 5, 2012
Inherited thrombophilia in pediatric ischemic stroke: an Egyptian study
Hamed M Shatla, Hoda Y Tomoum, Solaf M Elsayed, et al.
American Journal of Human Genetics
|
March 19, 2013
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
Shawna M Pyott, Thao T Tran, Dru F Leistritz, et al.
Human Molecular Genetics
|
January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Solaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
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of 3