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

Bằng ALKBATEEB, ASEM, AL-ALAMI, JAMIL, LEAL, SUZANNE M., EL-SHANTI, HATEM
Xuất bản năm Genet Test (1999)

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

Bằng 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
Được phát hành 2011

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Bằng 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
Xuất bản năm Ann Clin Transl Neurol (2016)