Propionic acidemia mimicking diabetic ketoacidosis von Dweikat, Imad M, Naser, Enas N, Abu Libdeh, Abdulsalam I, Naser, Osama J, Abu Gharbieh, Najwan N, Maraqa, Nizar F, Abu Libdeh, Bassam Y

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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis von Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y., Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T., Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie

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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions von Melchionda, Laura, Damseh, Nadirah S, Abu Libdeh, Bassam Y, Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele

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Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis von Sultan, Mutaz, Rao, Anuradha, Elpeleg, Orly, Vaz, Frédéric M., Abu‐Libdeh, Bassam, Karpen, Saul J., Dawson, Paul A.

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Genetic screening of familial Mediterranean fever mutations in the Palestinian population von AYESH, Suhail K, NASSAR, Suheir M, AL-SHAREF, Wasif A, ABU-LIBDEH, Bassam Y, DARWISH, Hisham M

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Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza von AYESH, Suhail K, AL-SHAREF, Wasif A, NASSAR, Suheir M, THAWABTEH, Nabeel A, ABU-LIBDEH, Bassam Y

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features von Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.

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