检索结果 - Smits, Guillaume

NOVOPlasty: de novo assembly of organelle genomes from whole genome data 由 Dierckxsens, Nicolas, Mardulyn, Patrick, Smits, Guillaume

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Unraveling heteroplasmy patterns with NOVOPlasty 由 Dierckxsens, Nicolas, Mardulyn, Patrick, Smits, Guillaume

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Non-coding transcripts in the H19 imprinting control region mediate gene silencing in transgenic Drosophila 由 Schoenfelder, Stefan, Smits, Guillaume, Fraser, Peter, Reik, Wolf, Paro, Renato

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Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data 由 Chomette, Laura, Migeotte, Isabelle, Dewachter, Céline, Vachiery, Jean‐Luc, Smits, Guillaume, Bondue, Antoine

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Premature ovarian aging in mice deficient for Gpr3 由 Ledent, Catherine, Demeestere, Isabelle, Blum, David, Petermans, Julien, Hämäläinen, Tuula, Smits, Guillaume, Vassart, Gilbert

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The H19 lincRNA is a developmental reservoir of miR-675 which suppresses growth and Igf1r 由 Keniry, Andrew, Oxley, David, Monnier, Paul, Kyba, Michael, Dandolo, Luisa, Smits, Guillaume, Reik, Wolf

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Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database 由 Nachtegael, Charlotte, Gravel, Barbara, Dillen, Arnau, Smits, Guillaume, Nowé, Ann, Papadimitriou, Sofia, Lenaerts, Tom

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Understanding mutational effects in digenic diseases 由 Gazzo, Andrea, Raimondi, Daniele, Daneels, Dorien, Moreau, Yves, Smits, Guillaume, Van Dooren, Sonia, Lenaerts, Tom

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Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity 由 Smits, Guillaume, Campillo, Mercedes, Govaerts, Cédric, Janssens, Véronique, Richter, Christine, Vassart, Gilbert, Pardo, Leonardo, Costagliola, Sabine

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ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations 由 Renaux, Alexandre, Papadimitriou, Sofia, Versbraegen, Nassim, Nachtegael, Charlotte, Boutry, Simon, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom

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Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants 由 Hurni, Yannick, Marangoni, Martina, Garofalo, Giulia, Cassart, Marie, Tomasi, Lisa, Vandernoot, Isabelle, Smits, Guillaume, Gounongbé, Caroline

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Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation.... 由 Gambino, Giuseppe, Catalano, Concetta, Marangoni, Martina, Geers, Caroline, Moine, Alain Le, Boon, Nathalie, Smits, Guillaume, Ghisdal, Lidia

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Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant 由 D’Amico, Giovanna, De Laet, Corinne, Smits, Guillaume, Salik, Deborah, Deprez, Guillaume, Vilain, Catheline, Perlot, Pascale, Vicinanza, Alfredo

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Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity 由 Urizar, Eneko, Montanelli, Lucia, Loy, Tiffany, Bonomi, Marco, Swillens, Stéphane, Gales, Céline, Bouvier, Michel, Smits, Guillaume, Vassart, Gilbert, Costagliola, Sabine

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Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men 由 Brachet, Cécile, Kozhemyakina, Elena A, Boros, Emese, Heinrichs, Claudine, Balikova, Irina, Soblet, Julie, Smits, Guillaume, Vilain, Catheline, Mathers, Peter H

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Predicting disease-causing variant combinations 由 Papadimitriou, Sofia, Gazzo, Andrea, Versbraegen, Nassim, Nachtegael, Charlotte, Aerts, Jan, Moreau, Yves, Van Dooren, Sonia, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom

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BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems 由 Soblet, Julie, Dimov, Ivan, Graf von Kalckreuth, Clemens, Cano‐Chervel, Julie, Baijot, Simon, Pelc, Karin, Sottiaux, Martine, Vilain, Catheline, Smits, Guillaume, Deconinck, Nicolas

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High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta 由 Daelemans, Caroline, Ritchie, Matthew E, Smits, Guillaume, Abu-Amero, Sayeda, Sudbery, Ian M, Forrest, Matthew S, Campino, Susana, Clark, Taane G, Stanier, Philip, Kwiatkowski, Dominic, Deloukas, Panos, Dermitzakis, Emmanouil T, Tavaré, Simon, Moore, Gudrun E, Dunham, Ian

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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 由 Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

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Distinct antibody repertoires against endemic human coronaviruses in children and adults 由 Khan, Taushif, Rahman, Mahbuba, Ali, Fatima Al, Huang, Susie S. Y., Ata, Manar, Zhang, Qian, Bastard, Paul, Liu, Zhiyong, Jouanguy, Emmanuelle, Béziat, Vivien, Cobat, Aurélie, Nasrallah, Gheyath K., Yassine, Hadi M., Smatti, Maria K., Saeed, Amira, Vandernoot, Isabelle, Goffard, Jean-Christophe, Smits, Guillaume, Migeotte, Isabelle, Haerynck, Filomeen, Meyts, Isabelle, Abel, Laurent, Casanova, Jean-Laurent, Hasan, Mohammad R., Marr, Nico

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