Phenotype of apoptotic lymphocytes in children with Down syndrome

由 Elsayed, Solaf M, Elsayed, Ghada M
出版 2009

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

由 Eğin, Yonca, Elsayed, Solaf, Sakr, Mohamed, Akar, Nejat
出版 2012

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

由 Abdel Ghaffar, Tawhida Y, Elsobky, Ezzat S, Elsayed, Solaf M
出版 2011

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

由 EL-Sobky, Tamer Ahmed, Elsayed, Solaf M., EL Mikkawy, Dalia M.E.
發表在 Bone Rep (2015)

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

由 EL-Sobky, Tamer Ahmed, Elsobky, Ezzat, Sadek, Ismaiel, Elsayed, Solaf M., Khattab, Mohamed Fawzy
發表在 Bone Rep (2015)

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

由 Elsebaie, Hanan, Mansour, Mohamed Abdelhafiz, Elsayed, Solaf M., Mahmoud, Shady, El-Sobky, Tamer A.
發表在 Bone Rep (2021)

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

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

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

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

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

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

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

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

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

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

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

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

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

由 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
出版 2014

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

由 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
出版 2011

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

由 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.
出版 2013

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

由 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.
發表在 Hum Mol Genet (2015)

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

由 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.
發表在 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...

由 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.
發表在 Mol Genet Genomic Med (2017)

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

由 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.
發表在 Am J Hum Genet (2016)