Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.
Published in HGG advances (14.01.2021)
Published in HGG advances (14.01.2021)
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Journal Article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik‐Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel
Published in Annals of neurology (01.07.2021)
Published in Annals of neurology (01.07.2021)
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Journal Article
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
Ismail, Vardha, Zachariassen, Linda G, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O, Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S, Baralle, Diana
Published in American journal of human genetics (07.07.2022)
Published in American journal of human genetics (07.07.2022)
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Journal Article
Effect of crystallographic orientation on fretting wear behaviour of MoSx coatings in dry and humid air
ZHANG, X, VITCHEV, R. G, LAUWERENS, W, STALS, L, HE, J, CELIS, J.-P
Published in Thin solid films (21.09.2001)
Published in Thin solid films (21.09.2001)
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Journal Article
Adhesion of diamond coatings on cemented carbides
Nesládek, M., Vandierendonck, K., Quaeyhaegens, C., Kerkhofs, M., Stals, L.M.
Published in Thin solid films (01.12.1995)
Published in Thin solid films (01.12.1995)
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Journal Article
Conference Proceeding
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Published in Prenatal diagnosis (01.01.2018)
Published in Prenatal diagnosis (01.01.2018)
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Journal Article
Two-dimensional simulation of plasma-based ion implantation
Paulus, M., Stals, L., Rüde, U., Rauschenbach, B.
Published in Journal of applied physics (15.01.1999)
Published in Journal of applied physics (15.01.1999)
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Journal Article
Comparison of fretting wear of Cr-rich CrN and TiN coatings in air of different relative humidities
Chen, H, Wu, P.Q, Quaeyhaegens, C, Xu, K.W, Stals, L.M, He, J.W, Celis, J.-P
Published in Wear (01.09.2002)
Published in Wear (01.09.2002)
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Journal Article
Simulation of trench homogeneity in plasma immersion ion implantation
Keller, G., Rüde, U., Stals, L., Mändl, S., Rauschenbach, B.
Published in Journal of applied physics (15.07.2000)
Published in Journal of applied physics (15.07.2000)
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Journal Article
Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease
Edghill, E. L., Oram, R. A., Owens, M., Stals, K. L., Harries, L. W., Hattersley, A. T., Ellard, S., Bingham, C.
Published in Nephrology, dialysis, transplantation (30.10.2007)
Published in Nephrology, dialysis, transplantation (30.10.2007)
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Journal Article
Microstructure of model cermets with high Mo or W content
Lindahl, P, Gustafson, P, Rolander, U, Stals, L, Andrén, H.-O
Published in International journal of refractory metals & hard materials (01.01.1999)
Published in International journal of refractory metals & hard materials (01.01.1999)
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Journal Article
Energy distribution of ions in an unbalanced magnetron plasma measured with energy-resolved mass spectrometry
Kadlec, S., Quaeyhaegens, C., Knuyt, G., Stals, L.M.
Published in Surface & coatings technology (15.02.1997)
Published in Surface & coatings technology (15.02.1997)
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Journal Article
Parallel Computation of Flow in Heterogeneous Media Modelled by Mixed Finite Elements
Cliffe, K.A, Graham, I.G, Scheichl, R, Stals, L
Published in Journal of computational physics (01.11.2000)
Published in Journal of computational physics (01.11.2000)
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Journal Article
Structure and tribological properties of MoSx coatings prepared by bipolar DC magnetron sputtering
WANG, Jihui, LAUWERENS, W, WIEERS, E, STALS, L. M, JIAWEN HE, CELIS, J. P
Published in Surface & coatings technology (15.05.2001)
Published in Surface & coatings technology (15.05.2001)
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Journal Article
Optical emission spectroscopy of the plasma during CVD diamond growth with nitrogen addition
Vandevelde, T., Nesladek, M., Quaeyhaegens, C., Stals, L.
Published in Thin solid films (15.12.1996)
Published in Thin solid films (15.12.1996)
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Journal Article