Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours
Lumaka, Aimé, Fasquelle, Corinne, Debray, Francois-Guillaume, Alkan, Serpil, Jacquinet, Adeline, Harvengt, Julie, Boemer, François, Mulder, André, Vaessen, Sandrine, Viellevoye, Renaud, Palmeira, Leonor, Charloteaux, Benoit, Brysse, Anne, Bulk, Saskia, Rigo, Vincent, Bours, Vincent
Published in International journal of molecular sciences (16.02.2023)
Published in International journal of molecular sciences (16.02.2023)
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Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content
Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C, Kooi, M Eline, Feskens, Edith J M, Hollak, Carla E M, Lindeboom, Lucas, Koek, Ger H, Bons, Judith A P, Lefeber, Dirk J, Hodson, Leanne, Schalkwijk, Casper G, Stehouwer, Coen D A, Cassiman, David, Brouwers, Martijn C G J
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
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Green composites: A review of material attributes and complementary applications
Dicker, Michael P.M., Duckworth, Peter F., Baker, Anna B., Francois, Guillaume, Hazzard, Mark K., Weaver, Paul M.
Published in Composites. Part A, Applied science and manufacturing (01.01.2014)
Published in Composites. Part A, Applied science and manufacturing (01.01.2014)
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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
Boemer, François, Josse, Claire, Luis, Géraldine, Di Valentin, Emmanuel, Thiry, Jérôme, Cello, Christophe, Caberg, Jean-Hubert, Dadoumont, Caroline, Harvengt, Julie, Lumaka, Aimé, Bours, Vincent, Debray, François-Guillaume
Published in International journal of molecular sciences (18.02.2022)
Published in International journal of molecular sciences (18.02.2022)
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A common reference population from four European Holstein populations increases reliability of genomic predictions
Lund, Mogens S, Roos, Adrianus P W de, Vries, Alfred G de, Druet, Tom, Ducrocq, Vincent, Fritz, Sébastien, Guillaume, François, Guldbrandtsen, Bernt, Liu, Zenting, Reents, Reinhard, Schrooten, Chris, Seefried, Franz, Su, Guosheng
Published in Genetics selection evolution (Paris) (12.12.2011)
Published in Genetics selection evolution (Paris) (12.12.2011)
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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P, Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D, Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J, Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T, Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian
Published in The Journal of clinical investigation (15.06.2021)
Published in The Journal of clinical investigation (15.06.2021)
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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes
Valdes-Socin, Hernan, Rubio Almanza, Matilde, Tomé Fernández-Ladreda, Mariana, Debray, François Guillaume, Bours, Vincent, Beckers, Albert
Published in Frontiers in endocrinology (Lausanne) (01.01.2014)
Published in Frontiers in endocrinology (Lausanne) (01.01.2014)
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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
Debray, François-Guillaume, Morin, Charles, Janvier, Annie, Villeneuve, Josée, Maranda, Bruno, Laframboise, Rachel, Lacroix, Jacques, Decarie, Jean-Claude, Robitaille, Yves, Lambert, Marie, Robinson, Brian H, Mitchell, Grant A
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Correlation between long-term marine temperature time series from the eastern and western English Channel: Scaling analysis using empirical mode decomposition
Derot, Jonathan, Schmitt, François Guillaume, Gentilhomme, Valérie, Morin, Pascal
Published in Comptes rendus. Geoscience (01.05.2016)
Published in Comptes rendus. Geoscience (01.05.2016)
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease
Debray, Francois-Guillaume, de Halleux, Virginie, Guidi, Ornella, Detrembleur, Nancy, Gaillez, Stéphanie, Rausin, Léon, Goyens, Philippe, Pan, Xiaomin, Whitington, Peter F
Published in Pediatrics (Evanston) (01.04.2012)
Published in Pediatrics (Evanston) (01.04.2012)
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.07.2013)
Published in European journal of human genetics : EJHG (01.07.2013)
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Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco
Meiouet, Faïza, Kabbaj, Saâd El, Debray, François-Guillaume, Boemer, François
Published in Annales de biologie clinique (Paris) (01.02.2021)
Published in Annales de biologie clinique (Paris) (01.02.2021)
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Kidney and vascular function in adult patients with hereditary fructose intolerance
Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, Brouwers, Martijn C.G.J.
Published in Molecular genetics and metabolism reports (01.06.2020)
Published in Molecular genetics and metabolism reports (01.06.2020)
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Technique for Resection of Invasive Tumors Involving the Trigone Area of the Bladder in Dogs: Preliminary Results in Two Dogs
SAULNIER-TROFF, FRANCOIS-GUILLAUME, BUSONI, VALERIA, HAMAIDE, ANNICK
Published in Veterinary surgery (01.07.2008)
Published in Veterinary surgery (01.07.2008)
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Disorders of mitochondrial function
Debray, François-Guillaume, Lambert, Marie, Mitchell, Grant A
Published in Current opinion in pediatrics (01.08.2008)
Published in Current opinion in pediatrics (01.08.2008)
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Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
DEBRAY, François-Guillaume, Lambert, Marie, Lortie, Anne, Vanasse, Michel, Mitchell, Grant A
Published in American journal of medical genetics. Part A (01.09.2007)
Published in American journal of medical genetics. Part A (01.09.2007)
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An Energy-Conserving Hair Reflectance Model
d'Eon, Eugene, Francois, Guillaume, Hill, Martin, Letteri, Joe, Aubry, Jean-Marie
Published in Computer graphics forum (01.06.2011)
Published in Computer graphics forum (01.06.2011)
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Commentary: Complete Cranial Iliac Osteotomy to Approach the Lumbosacral Foramen
Saulnier Troff, Francois-Guillaume, Motta, Luca, De Busscher, Virginie
Published in Frontiers in veterinary science (03.07.2017)
Published in Frontiers in veterinary science (03.07.2017)
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