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المؤلفون: The Québec NTBC Study Group, Alvarez, Fernando^Aff6, Atkinson, Suzanne^Aff7, Bouchard, Manon^Aff7, Brunel-Guitton, Catherine^Aff7, Buhas, Daniela^Aff9, Bussières, Jean-François^Aff7, Dubois, Josée^Aff7, Fenyves, Daphna^Aff10, Goodyer, Paul^Aff9, Gosselin, Martyne^Aff7, Halac, Ugur^Aff8, Labbé, Patrick^Aff11, Laframboise, Rachel^Aff12, Maranda, Bruno^Aff13, Melançon, Serge^Aff9, Merouani, Aicha^Aff7, Mitchell, Grant A.^Aff7, Mitchell, John^Aff9, Parizeault, Guy^Aff11, Pelletier, Luc^Aff12, Phan, Véronique^Aff7, Turcotte, Jean-François^Aff12

المساهمون: COHEN, IRUN R., Series editor^Aff1, LAJTHA, ABEL, Series editor^Aff2, LAMBRIS, JOHN D., Series editor^Aff3, PAOLETTI, RODOLFO, Series editor^Aff4, Tanguay, Robert M., editor^Aff5

المصدر: Hereditary Tyrosinemia : Pathogenesis, Screening and Management. 959:187-195

المؤلفون: Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T., Wolf, Nicole I., Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez Solana, Luis, Thiffault, Isabelle, Kruer, Michael C., Gonzales Moron, Dolores, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melançon, Serge B.

المصدر: Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p1026-1034, 10p

المؤلفون: Lévesque, Sébastien^{Aff1_54, Aff2_54}, Lambert, Marie^Aff3_54, Karalis, Aspasia^{Aff1_54, Aff2_54}, Melancon, Serge^{Aff1_54, Aff2_54}, Russell, Laura^{Aff1_54, Aff2_54}, Braverman, Nancy^{Aff1_54, Aff2_54}

المساهمون: SSIEM

المصدر: JIMD Reports - Case and Research Reports, 2011/2. 2:97-102

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenco, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice M., Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, CA, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Genevieve

المصدر: Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Jo
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الإتاحة: http://hdl.handle.net/10852/93640
https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf

المؤلفون: Bernard, Geneviève, Thiffault, Isabelle, Tetreault, Martine, Putorti, Maria Lisa, Bouchard, Isabelle, Sylvain, Michel, Melançon, Serge, Laframboise, Rachel, Langevin, Pierre, Bouchard, Jean-Pierre, Vanasse, Michel, Vanderver, Adeline, Sébire, Guillaume, Brais, Bernard

المصدر: neurogenetics. October 2010 11(4):457-464

المؤلفون: Hechtman, Peter, Boulay, Bernard, De Braekeleer, Marc, Andermann, Eve, Melançon, Serge, Larochelle, Jean, Prevost, Claude, Kaplan, Feige

المصدر: Human Genetics. December 1992 90(4):402-406

المؤلفون: Simard, Louise R., Gingras, France, Delvoye, Nathalie, Vanasse, Michel, Melançon, Serge B., Labuda, Damian

المصدر: Human Genetics. June 1992 89(4):419-424

المؤلفون: CHARBONNEAU, MYRIAM, LABERGE, CLAUDE, SCRIVER, CHARLES R., DUSSAULT, JEAN H., LEMIEUX, BERNARD, MELANÇON, SERGE

المصدر: Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique, 1987 Mar 01. 78(2), 79-83.

URL الوصول: https://www.jstor.org/stable/41989328

المؤلفون: Larochelle, Jean, Alvarez, Fernando, Bussières, Jean-François, Chevalier, Isabelle, Dallaire, Louis, Dubois, Josée, Faucher, Frédéric, Fenyves, Daphna, Goodyer, Paul, Grenier, André, Holme, Elisabeth, 1947, Laframboise, Rachel, Lambert, Marie, Lindstedt, Sven, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Rinaldo, Piero, Scott, C Ronald, Scriver, Charles, Mitchell, Grant A

المصدر: Molecular genetics and metabolism. 107(1-2):49-54

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin

URL الوصول: https://gup.ub.gu.se/publication/168073