Genetic disorders among Arab populations

door Teebi, Ahmad S.
Gepubliceerd in 2010

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

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

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

door 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.
Gepubliceerd in 2010

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

door 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.
Gepubliceerd in 2003

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

door 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
Gepubliceerd in 2010

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

door 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
Gepubliceerd in 2007

Additional EFNB1 Mutations in Craniofrontonasal Syndrome

door 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
Gepubliceerd in 2008

Structural Variation of Chromosomes in Autism Spectrum Disorder

door 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.
Gepubliceerd in 2008