Phenotype of apoptotic lymphocytes in children with Down syndrome

ανά Elsayed, Solaf M, Elsayed, Ghada M
Έκδοση 2009

TNF-α-308 G/A Polymorphism in Egyptian Budd-Chiari Syndrome Patients

ανά Eğin, Yonca, Elsayed, Solaf, Sakr, Mohamed, Akar, Nejat
Έκδοση 2012

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

ανά Abdel Ghaffar, Tawhida Y, Elsobky, Ezzat S, Elsayed, Solaf M
Έκδοση 2011

Orthopaedic manifestations of Proteus syndrome in a child with literature update()

ανά EL-Sobky, Tamer Ahmed, Elsayed, Solaf M., EL Mikkawy, Dalia M.E.
Τόπος έκδοσης Bone Rep (2015)

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

ανά EL-Sobky, Tamer Ahmed, Elsobky, Ezzat, Sadek, Ismaiel, Elsayed, Solaf M., Khattab, Mohamed Fawzy
Τόπος έκδοσης Bone Rep (2015)

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

ανά Elsebaie, Hanan, Mansour, Mohamed Abdelhafiz, Elsayed, Solaf M., Mahmoud, Shady, El-Sobky, Tamer A.
Τόπος έκδοσης Bone Rep (2021)

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

ανά Abdel Ghaffar, Tawhida Y, Elsayed, Solaf M, Elnaghy, Suzan, Shadeed, Ahmed, Elsobky, Ezzat S, Schmidt, Hartmut
Έκδοση 2011

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

ανά Abdel Maksoud, Mamdouh, ELsayed, Solaf Mohamed, Shatla, Rania H, Imam, Abdulbasit Abdulhalim, Elsayed, Riad M, Mosabah, Amira AA, Sherif, Ashraf M
Τόπος έκδοσης Neuropsychiatr Dis Treat (2018)

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

ανά Prati Daniele, Elsayed Solaf, Kakourou Talia, Sertedaki Amalia, Moro Laura, Coleman Rosalind A, Redaelli Chiara, Colli Agostino, Mela Donatella, Colombo Roberto, Tavian Daniela
Έκδοση 2011-02-01

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

ανά Redaelli, Chiara, Coleman, Rosalind A, Moro, Laura, Dacou-Voutetakis, Catherine, Elsayed, Solaf Mohamed, Prati, Daniele, Colli, Agostino, Mela, Donatella, Colombo, Roberto, Tavian, Daniela
Έκδοση 2010

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

ανά Abdel Ghaffar, Tawhida Y., Ng, Bobby G., Elsayed, Solaf M., El Naghi, Suzan, Helmy, Sarah, Mohammed, Nermine, El Hennawy, Ahmed, Freeze, Hudson H.
Τόπος έκδοσης JIMD Rep (2020)

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

ανά Redaelli, Chiara, Coleman, Rosalind A, Moro, Laura, Sertedaki, Amalia, Kakourou, Talia, Elsayed, Solaf Mohamed, Prati, Daniele, Colli, Agostino, Mela, Donatella, Colombo, Roberto, Tavian, Daniela
Έκδοση 2011

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

ανά Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J
Έκδοση 2014

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

ανά Dafinger, Claudia, Liebau, Max Christoph, Elsayed, Solaf Mohamed, Hellenbroich, Yorck, Boltshauser, Eugen, Korenke, Georg Christoph, Fabretti, Francesca, Janecke, Andreas Robert, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Zentgraf, Hanswalter, Koerber, Friederike, Addicks, Klaus, Elsobky, Ezzat, Benzing, Thomas, Schermer, Bernhard, Bolz, Hanno Jörn
Έκδοση 2011

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

ανά Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Έκδοση 2013

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

ανά Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.
Τόπος έκδοσης Hum Mol Genet (2015)

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

ανά Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Τόπος έκδοσης Genet Med (2016)

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

ανά Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Τόπος έκδοσης Mol Genet Genomic Med (2017)

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

ανά Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Τόπος έκδοσης Am J Hum Genet (2016)