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

由 ALKBATEEB, ASEM, AL-ALAMI, JAMIL, LEAL, SUZANNE M., EL-SHANTI, HATEM
發表在 Genet Test (1999)

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

由 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
出版 2011

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

由 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
發表在 Ann Clin Transl Neurol (2016)