Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria von Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.

Volltext

Distinguishing the four genetic causes of jouberts syndrome-related disorders von Valente, Enza Maria, Marsh, Sarah E., Castori, Marco, Dixon-Salazar, Tracy, Bertini, Enrico, Al-Gazali, Lihadh, Messer, Jean, Barbot, Clara, Woods, C. Geoffrey, Boltshauser, Eugen, Al-Tawari, Asma A., Salpietro, Carmelo D., Kayserili, Hulya, Sztriha, László, Gribaa, Moez, Koenig, Michel, Dallapiccola, Bruno, Gleeson, Joseph G.

Volltext

Ethylmalonic encephalopathy—report of two cases von Heberle, Lada Cindro, Al Tawari, Asma A., Ramadan, Dina G., Ibrahim, Jamila K.

Volltext

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families von HANNA, R. M, MARSH, S. E, BOGLARKA, B, DIETRICH, R. B, DOBYNS, W. B, TRUWIT, C. L, SATTAR, S, CHUANG, N. A, SHERR, E. H, GLEESON, J. G, SWISTUN, D, AL-GAZALI, L, ZAKI, M. S, ABDEL-SALAM, G. M, AL-TAWARI, A, BASTAKI, L, KAYSERILL, H, RAJAB, A

Volltext

Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond von Elbashir, Haitham, Fathalla, Waseem, Mundada, Vivek, Iqbal, Mehtab, Al Tawari, Asmaa A, Chandratre, Saleel, Bastaki, Laila, Romany, Ingy, Ismayl, Omar, Abou Tayoun, Ahmad

Volltext

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex von Ramadan, D. G., Head, R. A., Al‐Tawari, A., Habeeb, Y., Zaki, M., Al‐Ruqum, F., Besley, G. T. N., Wraith, J. E., Brown, R. M., Brown, G. K.

Volltext

Delayed Effects of Transcutaneous Organophosphate Poisoning in Four Children von Pavlovic, Milen, Neubauer, David, Al-Tawari, Asma A.

Volltext

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders von Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM

Volltext

An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait von Al Tawari, Asma A, Ramadan, Dina G, Neubauer, David, Heberle, Lada Cindro, Al Awadi, Fatema

Volltext

Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis von Vattoth, S., Pandey, T., Al Tawari, A. A., Makar, R., Abdulla, J. K Ibrahim

Volltext

What syndrome is this? Autosomal recessive type II cutis laxa von Nanda, Arti, Lionel, Jesuraj, Al-Tawari, Asma A, Anim, Jehoram Tei

Volltext

Autosomal Recessive Type II Cutis Laxa von Mallory, Susan B., Krafchik, Bernice R., Nanda, Arti, Lionel, Jesuraj, Al-Tawari, Asma A., Anim, Jehoram Tei

Volltext

Brain MRI features of merosin-negative congenital muscular dystrophy von Ibrahim Abdulla, JK, Vattoth, S, Al Tawari, AA, Pandey, T, Abubacker, S

Volltext

P127 – 1650 Severe PANDAS-like course: a case report von Cindro Heberle, L, Pavlović, M, Neubauer, D, Al Tawari, A

Volltext

What syndrome is this? von NANDA, Arti, LIONEL, Jesuraj, AL-TAWARI, Asma A, JEHORAM TEI ANIM

Volltext

P17.10 GLUT-1 deficiency syndrome: Can early treatment with ketogenic diet prevent epileptic encephalopathy? von Jocić-Jakubi, B., Al Tawari, A., Cindro-Heberle, L., Al Qood, N.

Volltext

P26 – 2615: Landau Kleffner syndrome following a minor head trauma – Case report von Pavlovic, M, Neubauer, D, Tawari, A. Al, Heberle, L. Cindro, Jakubi, B. Jocic

Volltext

Expanding CEP290 mutational spectrum in ciliopathies von Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

Volltext

Craniofacial dyssynostosis with cryptorchidism and normal stature von Al-Torki, N.A., Sabry, M.A., Al-Tawari, A., Al-Kandari, N.H., Al-Awadi, S.A.

Volltext

Case report: the genetic diagnosis of duchenne muscular dystrophy in the Middle East von Alghamdi, F., Al-Tawari, A., Alrohaif, H., Alshuaibi, W., Mansour, H., Aartsma-Rus, A., Megarbane, A.

Volltext bestellen