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Cazorla, M. Ángeles García

Mayo Clinic

Hospital Sant Joan de Déu Barcelona

Citations 1

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Scala, Marcello , Wortmann, Saskia B. , Kaya, Namik , Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., Cazorla, M. Ángeles García, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S. , Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, Knaap, Marjo S. van der , Maroofian, Reza, Houlden, Henry, Houlden, Henry , Issa, Mahmoud Y. , Tort, Frederic , Efthymiou, Stéphanie , Bierau, Jörgen , Barakat, Tahsin Stefan , Maroofian, Reza , Ribes, Antonia , Alkuraya, Fowzan S , van der Knaap, Marjo S , Houlden, Henry , Maroofian, Reza , Scala, Marcello , Wortmann, Saskia , Kaya, Namik , Stellingwerff, Menno D., Pistorio, Angela , Glamuzina, Emma, Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya , Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham , Karimiani, Ehsan G., Yıldız, Yılmaz , Ceylan, Ahmet Cevdet , Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, Hargan, A. Al , Alwadei, Ali H., AlRasheed, Maha M., Çolak, Dilek , Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., Cazorla, M. Ángeles García, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Zaki, Maha S., Gleeson, Joseph G.

Human Mutation | January 6, 2022 | Volume: 43 | Issue: 3 | Pages: 403-419

10.1002/humu.24326 Get It