Хайлтын үр дүнгүүд - Hamel, Yamina

ZnT8 Is a Major CD8(+) T Cell–Recognized Autoantigen in Pediatric Type 1 Diabetes -н Énée, Émmanuelle, Kratzer, Roland, Arnoux, Jean-Baptiste, Barilleau, Emilie, Hamel, Yamina, Marchi, Christophe, Beltrand, Jacques, Michaud, Bénédicte, Chatenoud, Lucienne, Robert, Jean-Jacques, van Endert, Peter

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations -н Pelosi, Michele, Testet, Eric, Le Lay, Soazig, Dugail, Isabelle, Tang, Xiaoyun, Mabilleau, Guillaume, Hamel, Yamina, Madrange, Marine, Blanc, Thomas, Odent, Thierry, McMullen, Todd P. W., Alfò, Marco, Brindley, David N., de Lonlay, Pascale

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis -н Hamel, Yamina, Mauvais, François-Xavier, Madrange, Marine, Renard, Perrine, Lebreton, Corinne, Nemazanyy, Ivan, Pellé, Olivier, Goudin, Nicolas, Tang, Xiaoyun, Rodero, Mathieu P., Tuchmann-Durand, Caroline, Nusbaum, Patrick, Brindley, David N., van Endert, Peter, de Lonlay, Pascale

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase -н Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia -н Mamoune, Asmaa, Bahuau, Michel, Hamel, Yamina, Serre, Valérie, Pelosi, Michele, Habarou, Florence, Nguyen Morel, Marie-Ange, Boisson, Bertrand, Vergnaud, Sabrina, Viou, Mai Thao, Nonnenmacher, Luc, Piraud, Monique, Nusbaum, Patrick, Vamecq, Joseph, Romero, Norma, Ottolenghi, Chris, Casanova, Jean-Laurent, de Lonlay, Pascale

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Epithelial barrier dysfunction in desmoglein-1 deficiency -н Polivka, Laura, Hadj-Rabia, Smail, Bal, Elodie, Leclerc-Mercier, Stéphanie, Madrange, Marine, Hamel, Yamina, Bonnet, Damien, Mallet, Stéphanie, Lepidi, Hubert, Ovaert, Caroline, Barbet, Patrick, Dupont, Christophe, Neven, Bénédicte, Munnich, Arnold, Godsel, Lisa M., Campeotto, Florence, Weil, Robert, Laplantine, Emmanuel, Marchetto, Sylvie, Borg, Jean-Paul, Weis, William I., Casanova, Jean-Laurent, Puel, Anne, Green, Kathleen J., Bodemer, Christine, Smahi, Asma

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy -н Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах