Phenotype of apoptotic lymphocytes in children with Down syndrome

od Elsayed, Solaf M, Elsayed, Ghada M
Izdano 2009

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

od Eğin, Yonca, Elsayed, Solaf, Sakr, Mohamed, Akar, Nejat
Izdano 2012

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

od Abdel Ghaffar, Tawhida Y, Elsobky, Ezzat S, Elsayed, Solaf M
Izdano 2011

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

od EL-Sobky, Tamer Ahmed, Elsayed, Solaf M., EL Mikkawy, Dalia M.E.
izdano v Bone Rep (2015)

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

od EL-Sobky, Tamer Ahmed, Elsobky, Ezzat, Sadek, Ismaiel, Elsayed, Solaf M., Khattab, Mohamed Fawzy
izdano v Bone Rep (2015)

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

od Elsebaie, Hanan, Mansour, Mohamed Abdelhafiz, Elsayed, Solaf M., Mahmoud, Shady, El-Sobky, Tamer A.
izdano v Bone Rep (2021)

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

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

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

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

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

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

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

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

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

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

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

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

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

od 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
Izdano 2014

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

od 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
Izdano 2011

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

od 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.
Izdano 2013

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

od 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.
izdano v Hum Mol Genet (2015)

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

od 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.
izdano v 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...

od 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.
izdano v Mol Genet Genomic Med (2017)

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

od 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.
izdano v Am J Hum Genet (2016)