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.

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

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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.

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

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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

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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

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

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

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

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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, LADA CINDRO HEBERLE, FATEMA AL AWADI

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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants von Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind

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The Microcephaly-Capillary Malformation Syndrome in Two Brothers With Novel Clinical Features von Pavlović, Milen, MD, PhD, Neubauer, David, MD, PhD, Al Tawari, Asma, MD, PhD, Heberle, Lada Cindro, MD, PhD

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Additional file 3 of Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel var... von Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind

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Everolimus treatment in patient with tuberous sclerosis complex and giant cell astrocytoma (SEGA) – Kuwait experience von Jocic-Jakubi, Bosanka, Al Tawari, Asma, Heberle, Lada Cindro

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Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia von Akizu, Naiara, Shembesh, Nuri M., Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S., Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, da Gente, Gilberto, Li, Jiang, Deardorff, Matthew A., Conlin, Laura K., Horton, Margaret A., Zackai, Elaine H., Sherr, Elliott H., Gleeson, Joseph G.

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