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Affichage: 8 résultats.
    • Article de périodique
    Genetic studies into inherited and sporadic hemolytic uremic syndrome
    Warwicker, P Pirson, Yves[UCL] Goodship, THJ Donne, RL Nicholls, A Ward, RM Turnpenny, P Goodship, JA (1998) Kidney International — Vol. 53, no. 4, p. 836-44 (1998)
    • Article de périodique
    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
    • Article de périodique
    The mutagenicity of nitrite in the Salmonella/microsome test system.
    Balimandawa, M. De Meester, Conrad[UCL] Léonard, Albert[UCL] (1994) Mutation research — Vol. 321, no. 1-2, p. 7-11 (1994)
    • Article de périodique
    Co-inheritance of haemoglobin A2' and beta-thalassaemia in cis
    Vermeersch, P. Philippe, Marianne[UCL] Goossens, W. (2008) International Journal of Laboratory Hematology — Vol. 30, no. 4, p. 334-8 (2008)
    • Article de périodique
    Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy
    Lehtokari, Vilma-Lotta Pelin, Katarina Sandbacka, Maria Ranta, Salla Donner, Kati Muntoni, Francesco Sewry, Caroline Angelini, Corrado Bushby, Kate Van den Bergh, Peter[UCL] Iannaccone, Susan Laing, Nigel G. Wallgren-Pettersson, Carina (2006) Human Mutation — Vol. 27, no. 9, p. 946-56 (2006)
    • Article de périodique
    Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
    Wuyts, W. Reyniers, E Ceuterick, C. Storm, K. de Barsy, Thierry[UCL] Martin, JJ. (2005) American Journal of Medical Genetics. Part A — Vol. 133A, no. 1, p. 82-4 (2005)
    • Article de périodique
    Structure-function relationships of cytochrome b by the genetic approach: intragenic revertants derived from frameshift mutations in the Saccharomyces cerevisiae apocytochrome b gene.
    Colson, A M Edderkaoui, B. Coppée, J Y (1992) Biochimica et biophysica acta — Vol. 1101, no. 2, p. 157-61 (1992)
    • Article de périodique
    Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.
    Papadopoulos, Nicolas[UCL] Nedelec, Audrey[UCL] Derenne, Allison Şulea, Teodor Asvadur Pecquet, Christian[UCL] Chachoua, Ilyas Vertenoeil, Gaëlle[UCL] Tilmant, Thomas Petrescu, Andrei-Jose Mazzucchelli, Gabriel Iorga, Bogdan I Vertommen, Didier[UCL] Constantinescu, Stefan N.[UCL] (2023) Nature communications — Vol. 14, no. 1, p. 1881 [1-16] (2023)