Phenotype of apoptotic lymphocytes in children with Down syndrome

gan Elsayed, Solaf M, Elsayed, Ghada M
Cyhoeddwyd 2009

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

gan Eğin, Yonca, Elsayed, Solaf, Sakr, Mohamed, Akar, Nejat
Cyhoeddwyd 2012

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

gan Abdel Ghaffar, Tawhida Y, Elsobky, Ezzat S, Elsayed, Solaf M
Cyhoeddwyd 2011

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

gan EL-Sobky, Tamer Ahmed, Elsayed, Solaf M., EL Mikkawy, Dalia M.E.
Cyhoeddwyd yn Bone Rep (2015)

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

gan EL-Sobky, Tamer Ahmed, Elsobky, Ezzat, Sadek, Ismaiel, Elsayed, Solaf M., Khattab, Mohamed Fawzy
Cyhoeddwyd yn Bone Rep (2015)

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

gan Elsebaie, Hanan, Mansour, Mohamed Abdelhafiz, Elsayed, Solaf M., Mahmoud, Shady, El-Sobky, Tamer A.
Cyhoeddwyd yn Bone Rep (2021)

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

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

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

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

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

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

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

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

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

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

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

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

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

gan 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
Cyhoeddwyd 2014

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

gan 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
Cyhoeddwyd 2011

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

gan 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.
Cyhoeddwyd 2013

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

gan 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.
Cyhoeddwyd yn Hum Mol Genet (2015)

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

gan 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.
Cyhoeddwyd yn 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...

gan 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.
Cyhoeddwyd yn Mol Genet Genomic Med (2017)

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

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2016)