Entries of Zanlonghi, Xavier on the publication server
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Number of items: 2.
2020
Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan
, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian
, Dudakova, Lubica
, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian
, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander
, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan
, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D.
, Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika
, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M.
, van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra
, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa
, Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M.
(2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in Medicine 22 (7), pp. 1235-1246.
Fulltext not available.
, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian
, Dudakova, Lubica
, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian
, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander
, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan
, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D.
, Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika
, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M.
, van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra
, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa
, Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M.
(2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in Medicine 22 (7), pp. 1235-1246.
Fulltext not available.
2012
Audo, Isabelle
, Bujakowska, Kinga
, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne
, Luu, Tien D., Lecompte, Odile
, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride
, Sharon, Dror
, Banin, Eyal, Jacobson, Samuel G.
, Bonneau, Dominique
, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim
, Sahel, José-Alain
, Bhattacharya, Shomi S.
and Zeitz, Christina
(2012)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 90 (2), pp. 321-330.
Fulltext not available.
, Bujakowska, Kinga
, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne
, Luu, Tien D., Lecompte, Odile
, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride
, Sharon, Dror
, Banin, Eyal, Jacobson, Samuel G.
, Bonneau, Dominique
, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim
, Sahel, José-Alain
, Bhattacharya, Shomi S.
and Zeitz, Christina
(2012)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 90 (2), pp. 321-330.
Fulltext not available.
