Genetic disorders among Arab populations

per Teebi, Ahmad S.
Publicat 2010

Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families with a Mutation in the C2orf37 Gene

per Ben-Omran, Tawfeg, Ali, Rehab, Almureikhi, Mariam, Alameer, Seham, Al-Saffar, Muna, Walsh, Christopher A., Felie, Jillian M., Teebi, Ahmad
Publicat a Am J Med Genet A (2011)

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

per Anastasio, Natascia, Ben-Omran, Tawfeg, Teebi, Ahmad, Ha, Kevin C.H., Lalonde, Emilie, Ali, Rehab, Almureikhi, Mariam, Der Kaloustian, Vazken M., Liu, Junhui, Rosenblatt, David S., Majewski, Jacek, Jerome-Majewska, Loydie A.
Publicat 2010

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

per Dowling, Oonagh, Difeo, Analisa, Ramirez, Maria C., Tukel, Turgut, Narla, Goutham, Bonafe, Luisa, Kayserili, Hulya, Yuksel-Apak, Memnune, Paller, Amy S., Norton, Karen, Teebi, Ahmad S., Grum-Tokars, Valerie, Martin, Gail S., Davis, George E., Glucksman, Marc J., Martignetti, John A.
Publicat 2003

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

per Wouters, Vinciane, Limaye, Nisha, Uebelhoer, Melanie, Irrthum, Alexandre, Boon, Laurence M, Mulliken, John B, Enjolras, Odile, Baselga, Eulalia, Berg, Jonathan, Dompmartin, Anne, Ivarsson, Sten A, Kangesu, Loshan, Lacassie, Yves, Murphy, Jill, Teebi, Ahmad S, Penington, Anthony, Rieu, Paul, Vikkula, Miikka
Publicat 2010

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

per Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad, Loscertales, Maria, Robson, Caroline, Liu, Tianming, MacLaughlin, David T, Noonan, Kristin M, Russell, Meaghan K, Walsh, Christopher A, Donahoe, Patricia K, Pober, Barbara R
Publicat 2007

Additional EFNB1 Mutations in Craniofrontonasal Syndrome

per Wallis, Deeann, Lacbawan, Felicitas, Jain, Mahim, Der Kaloustian, Vazken M., Steiner, Carlos E., Moeschler, John B., Losken, H. Wolfgang, Kaitila, Ilkka I., Cantrell, Stephen, Proud, Virginia K., Carey, John C., Day, Donald W., Lev, Dorit, Teebi, Ahmad S., Robinson, Luther K., Hoyme, H. Eugene, Al-Torki, Nadia, Siegel-Bartelt, Jacqueline, Mulliken, John B., Robin, Nathaniel H., Saavedra, Dolores, Zackai, Elaine H., Muenke, Maximilian
Publicat 2008

Structural Variation of Chromosomes in Autism Spectrum Disorder

per Marshall, Christian R., Noor, Abdul, Vincent, John B., Lionel, Anath C., Feuk, Lars, Skaug, Jennifer, Shago, Mary, Moessner, Rainald, Pinto, Dalila, Ren, Yan, Thiruvahindrapduram, Bhooma, Fiebig, Andreas, Schreiber, Stefan, Friedman, Jan, Ketelaars, Cees E.J., Vos, Yvonne J., Ficicioglu, Can, Kirkpatrick, Susan, Nicolson, Rob, Sloman, Leon, Summers, Anne, Gibbons, Clare A., Teebi, Ahmad, Chitayat, David, Weksberg, Rosanna, Thompson, Ann, Vardy, Cathy, Crosbie, Vicki, Luscombe, Sandra, Baatjes, Rebecca, Zwaigenbaum, Lonnie, Roberts, Wendy, Fernandez, Bridget, Szatmari, Peter, Scherer, Stephen W.
Publicat 2008