E. Elsobky

发表

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

I. Ebermann, R. Heller, G. Nürnberg, 2013, European Journal of Human Genetics.

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Emily H Turner, B. Fernandez, Joshua D. Smith, 2013, American journal of human genetics.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

H. Zentgraf, I. Ebermann, H. Bolz, 2011, The Journal of clinical investigation.

Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients.

I. Abdel-Hamid, E. Elsobky, F. El-Dahtory, 2012, Journal of andrology.

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients

S. Elsayed, E. Elsobky, Tawhida Y Abdel Ghaffar, 2011, BMC pediatrics.

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

M. Lathrop, C. Vigouroux, F. Terro, 2016, The Journal of clinical endocrinology and metabolism.

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

M. Westerfield, I. Ebermann, H. Bolz, 2015, Human molecular genetics.

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

S. Elsayed, E. Elsobky, Tawhida Y. Abdel Ghaffar, 2011, Orphanet journal of rare diseases.

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

S. Elsayed, E. Elsobky, T. El-Sobky, 2015, Bone reports.

Phenotypic and Genotypic Profile of an Egyptian Sample of Children with Neurodevelopmental Disorders; Two Case Reports of Microdeletion 22q11.2 Syndrome (DiGeorge/Velocardiofacial Syndrome)

E. Zaky, S. Elsayed, E. Elsobky, 2015 .

Cytogenetic aberrations and the development of uterine leiomyomata

E. Elsobky, M. El-Gharib, 2009, The journal of obstetrics and gynaecology research.

Ribosomal protein S19 - 631 insertion is an African-originated mutation.

N. Akar, S. Elsayed, E. Elsobky, 2010, Turkish journal of haematology : official journal of Turkish Society of Haematology.

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

B. Bochow, H. Schmidt, S. Elsayed, 2008, Journal of Human Genetics.

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

E. Elsobky, M. Elsaied, Y. Moustafa, 2017 .

Nonmosaic 47,XYY syndrome presenting with male infertility: case series

I. Abdel-Hamid, E. Elsobky, M. M. Abdel-Razic, 2012, Andrologia.

Prognostic value of the t(14;18)(q32;q21) in patients with diffuse large B-cell lymphoma.

Y. Al-Tonbary, E. Elsobky, H. Degheidy, 2010, Cancer investigation.

Prognostic Value of the t(14;18)(q32;q21) in Patients With Diffuse Large B-Cell Lymphoma

Y. Al-Tonbary, E. Elsobky, H. Degheidy, 2010 .

Disorders of Sex Determination

I. Abdel-Hamid, E. Elsobky, M. Elsaied, 2020 .

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

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

G. Basile, S. Elsayed, E. Elsobky, 2016 .

Reversal of skeletal radiographic pathology in a case of malignant infantile osteopetrosis following hematopoietic stem cell transplantation

S. Elsayed, E. Elsobky, T. El-Sobky, 2017 .

Rapid sex determination using PCR technique compared to classic cytogenetics.

A. Hammad, E. Elsobky, A. Settin, 2008, International journal of health sciences.

DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEUROHEPATOPATHY SYNDROME

I. Ebermann, H. Bolz, G. Nürnberg, 2008, Neurology.

Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients.

N. Akar, S. Elsayed, E. Elsobky, 2011, Turkish journal of haematology : official journal of Turkish Society of Haematology.

Maternal risk factors in young Egyptian mothers of Down syndrome

N. Akar, S. Elsayed, E. Elsobky, 2009 .

Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies

E. Zaky, E. Elsobky, R. Shawky, 2009 .

Molecular Genetic Analysis in Mild Hyperhomocysteinemia: A Common Mutation in the Methylenetetrahydrofolate Reductase Gene Associated with Recurrent Cerebrovascular Strokes

S. Elsayed, E. Elsobky, Y. Awaad, 2004 .

Frequency of five thrombophilic polymorphisms in the Egyptian population.

M. Tekin, N. Akar, E. Elsobky, 2006, Turkish journal of haematology : official journal of Turkish Society of Haematology.

Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

E. Zaky, S. Elsayed, E. Elsobky, 2011 .

A novel mutation in BAP/SIL1 gene causes Marinesco–Sjögren syndrome in an extended pedigree

M. Cleves, E. Elsobky, M. Elsayed, 2006, Clinical genetics.

Maladaptative autophagy impairs adipose function 1 in Congenital Generalized Lipodystrophy due to cavin-1 deficiency 2 3

M. Auclair, M. Delepine, O. Lascols, 2016 .

Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients.

I. Abdel-Hamid, E. Elsobky, F. El-Dahtory, 2012, Journal of andrology.

Further Evidence of the Clinical, Hormonal and Genetic Heterogeneity of Klinefelter Syndrome: A study of 216 Infertile Egyptian Patients Short Running Title: Heterogeneity of Klinefelter Syndrome

E. Elsobky, Moheb M. Abdel-Razic, Ibrahim A. Abdel-Hamid, 2011 .

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

H. Zentgraf, I. Ebermann, H. Bolz, 2011, The Journal of clinical investigation.