Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification

Por ALKBATEEB, ASEM, AL-ALAMI, JAMIL, LEAL, SUZANNE M., EL-SHANTI, HATEM
Publicado no Genet Test (1999)

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

Por Jesus, Adriana A., Osman, Mazen, Silva, Clovis A., Kim, Peter W., Pham, Tuyet-Hang, Gadina, Massimo, Yang, Barbara, Bertola, Débora R., Carneiro-Sampaio, Magda, Ferguson, Polly J., Renshaw, Blair R., Schooley, Ken, Brown, Michael, Al-Dosari, Asma, Al-Alami, Jamil, Sims, John E., Goldbach-Mansky, Raphaela, El-Shanti, Hatem
Publicado em 2011

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Por Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Publicado no Ann Clin Transl Neurol (2016)