BIOMARKERS DISCRIMINATING PHENOTYPES OF X-ADRENOLEUKODYSTROPHY von PUJOL ONOFRE, Aurora, FOURCADE, Stéphane, RUIZ SALES, Montserrat, PLANAS SERRA, Laura, CASANOVAS PONS, Carlos, SCHLÜTER MARTIN, Agatha

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BIOMARKERS DISCRIMINATING THE DISCORDANT PHENOTYPES OF X-ADRENOLEUKODYSTROPHY von PUJOL ONOFRE, Aurora, FOURCADE, Stéphane, RUIZ SALES, Montserrat, PLANAS SERRA, Laura, CASANOVAS PONS, Carlos, SCHLÜTER MARTIN, Agatha

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ClinPrior supplemental files von Martín, Agatha Schlüter

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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder von Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.

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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases von Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora

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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases von Verdura, Edgard, Schlüter, Agatha, Fernández Eulate, Gorka, Ramos-Martín, Raquel, Zulaica, Miren, Planas Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas Pons, Carlos, López de Munain, Adolfo, Pujol Onofre, Aurora

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X-linked recessive TLR7 deficiency in similar to 1% of men under 60 years old with life-threatening COVID-19 von Asano, Takaki, Boisson, Bertrand, Onodi, Fanny, Matuozzo, Daniela, Moncada-Velez, Marcela, Renkilaraj, Majistor Raj Luxman Maglorius, Zhang, Peng, Meertens, Laurent, Bolze, Alexandre, Materna, Marie, Korniotis, Sarantis, Gervais, Adrian, Talouarn, Estelle, Bigio, Benedetta, Seeleuthner, Yoann, Bilguvar, Kaya, Zhang, Yu, Neehus, Anna-Lena, Ogishi, Masato, Pelham, Simon J, Le Voyer, Tom, Rosain, Jeremie, Philippot, Quentin, Soler-Palacin, Pere, Colobran, Roger, Martin-Nalda, Andrea, Riviere, Jacques G, Tandjaoui-Lambiotte, Yacine, Chaibi, Khalil, Shahrooei, Mohammad, Darazam, Ilad Alavi, Olyaei, Nasrin Alipour, Mansouri, Davood, Palabiyik, Figen, Ozcelik, Tayfun, Novelli, Giuseppe, Novelli, Antonio, Casari, Giorgio, Aiuti, Alessandro, Carrera, Paola, Bondesan, Simone, Barzaghi, Federica, Rovere-Querini, Patrizia, Tresoldi, Cristina, Franco, Jose Luis, Rojas, Julian, Reyes, Luis Felipe, Bustos, Ingrid G, Arias, Andres Augusto, Morelle, Guillaume, Kyheng, Christele, Troya, Jesus, Planas-Serra, Laura, Schluter, Agatha, Gut, Marta, Pujol, Aurora, Allende, Luis M, Rodriguez-Gallego, Carlos, Flores, Carlos, Cabrera-Marante, Oscar, Pleguezuelo, Daniel E, de Diego, Rebeca Perez, Keles, Sevgi, Aytekin, Gokhan, Akcan, Ozge Metin, Bryceson, Yenan T, Bergman, Peter, Brodin, Petter, Smole, Daniel, Smith, C.I. Edvard, Norlin, Anna-Carin, Campbell, Tessa M, Covill, Laura E, Hammarstrom, Lennart, Pan-Hammarstrom, Qiang, Abolhassani, Hassan, Mane, Shrikant, Marr, Nico, Ata, Manar, Al Ali, Fatima, Khan, Taushif, Spaan, Andras N, Dalgard, Clifton L, Bonfanti, Paolo, Biondi, Andrea, Tubiana, Sarah, Burdet, Charles, Nussbaum, Robert, Kahn-Kirby, Amanda, Snow, Andrew L, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stephanie, Zhang, Shen-Ying, Beziat, Vivien, Lifton, Richard P, Bastard, Paul, Notarangelo, Luigi D, Abel, Laurent, Su, Helen C

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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 von Matuozzo, Daniela, Talouarn, Estelle, Zhang, Peng, Manry, Jeremy, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Allende-Martinez, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan, Bustos, Ingrid G, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobrán Oriol, Roger, Condino-Neto, Antonio, Delmonte, Ottavia M, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Hancerli, Selda, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Franco, Jose Luis, Mansouri, Davood, Martínez Picado, Francisco Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Novelli, Giuseppe, Novelli, Antonio, Palabiyik, Figen, Pan-Hammarström, Qiang, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacín, Pere, Tandjaoui-Lambiotte redondo, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Alosaimi, Mohammed Faraj, Alsohime, Fahad M, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurélie, Universitat Autònoma de Barcelona

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Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 von Matuozzo, Daniela, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Abolhassani, Hassan, Abou Tayoun, Ahmad, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Troya, Jesus, Zatz, Mayana, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Zhang, Shen-Ying, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, Cobat, Aurélie

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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 von Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Zhang, Peng, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Tayoun, Ahmad Abou, Aiuti, Alessandro, Darazam, Ilad Alavi, Allende, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E, El Zein, Loubna, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, Pérez de Diego, Rebeca, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Dalgard, Clifton L, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert

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