Search Results - "Stals, L."

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome by 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.

“…Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity…”
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism by 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

“…Objective Precursors of peptide hormones undergo posttranslational modifications within the trans‐Golgi network (TGN). Dysfunction of proteins involved at…”
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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome by 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

“…GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as…”
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Effect of crystallographic orientation on fretting wear behaviour of MoSx coatings in dry and humid air by ZHANG, X, VITCHEV, R. G, LAUWERENS, W, STALS, L, HE, J, CELIS, J.-P

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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism by Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian

“…Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes…”
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Adhesion of diamond coatings on cemented carbides by Nesládek, M., Vandierendonck, K., Quaeyhaegens, C., Kerkhofs, M., Stals, L.M.

“…Precise quantification of the adhesion of diamond coatings on cemented carbide (WC-Co) inserts is important for industrial applications. Adhesion is strongly…”
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A quantitative model for the evolution from random orientation to a unique texture in PVD thin film growth by Knuyt, G., Quaeyhaegens, C., D'Haen, J., Stals, L.M.

“…The continuous evolution from a random crystalline orientation (near the substrate) towards a definite texture (near the outer surface), established in the…”
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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing by 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

“…Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of…”
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A unified theoretical model for tensile and compressive residual film stress by Knuyt, G., Lauwerens, W., Stals, L.M.

“…A relative simple model is elaborated for the overall behaviour of the residual stress in a coating layer, grown under continuous bombarding of energetic…”
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A continuous time Markov chain model for a plantation-nursery system by Gani, J., Stals, L.

“…This article examines a continuous time Markov chain model for a plantation‐nursery system in which diseased plantation trees are replaced at a daily rate λ by…”
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Comparison of fretting wear of Cr-rich CrN and TiN coatings in air of different relative humidities by Chen, H, Wu, P.Q, Quaeyhaegens, C, Xu, K.W, Stals, L.M, He, J.W, Celis, J.-P

“…The CrN and TiN coatings deposited on tool steel substrates by ion beam assisted deposition (IBAD) and triode ion-plating techniques, respectively, were…”
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Hepatocyte nuclear factor-1  gene deletions--a common cause of renal disease by Edghill, E. L., Oram, R. A., Owens, M., Stals, K. L., Harries, L. W., Hattersley, A. T., Ellard, S., Bingham, C.

“…Background. Hepatocyte nuclear factor-1β (HNF-1β) is a critical transcription factor in pancreatic and renal development. Our previous report identified HNF-1β…”
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Microstructure of model cermets with high Mo or W content by Lindahl, P, Gustafson, P, Rolander, U, Stals, L, Andrén, H.-O

“…The microstructure of (mol%) TiC–18TiN–24Ni–(10–29)WC and TiC–18TiN–24Ni–(5–14)Mo 2C has been investigated using X-ray diffraction (XRD), optical microscopy…”
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Energy distribution of ions in an unbalanced magnetron plasma measured with energy-resolved mass spectrometry by Kadlec, S., Quaeyhaegens, C., Knuyt, G., Stals, L.M.

“…The energy distribution of ions in the plasma during unbalanced magnetron sputtering was measured with an energy-resolved mass spectrometer. Typical energy…”
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Parallel Computation of Flow in Heterogeneous Media Modelled by Mixed Finite Elements by Cliffe, K.A, Graham, I.G, Scheichl, R, Stals, L

“…In this paper we describe a fast parallel method for solving highly ill-conditioned saddle-point systems arising from mixed finite element simulations of…”
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The spread of a viral infection in a plantation by Gani, J., Stals, L.

“…We consider a plantation subject to viral infection, in which infected plants are replaced by plants from a nursery, also subject to a minor degree of…”
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Dominant defect levels in diamond thin films: A photocurrent and electron paramagnetic resonance study by Nesládek, M., Stals, L. M., Stesmans, A., Iakoubovskij, K., Adriaenssens, G. J, Rosa, J., Vaněček, M.

“…Characteristic features in photocurrent (PC) and electron paramagnetic resonance (EPR) spectra are discussed and attributed to main defects in the gap of…”
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Structure and tribological properties of MoSx coatings prepared by bipolar DC magnetron sputtering by WANG, Jihui, LAUWERENS, W, WIEERS, E, STALS, L. M, JIAWEN HE, CELIS, J. P

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Optical emission spectroscopy of the plasma during CVD diamond growth with nitrogen addition by Vandevelde, T., Nesladek, M., Quaeyhaegens, C., Stals, L.

“…Careful control of the process parameters during CVD diamond synthesis allows growth of diamond films with different morphologies and preferred orientations…”
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Hepatocyte nuclear factor-1β gene deletions—a common cause of renal disease by Edghill, Emma L., Oram, Richard A., Owens, Martina, Stals, Karen L., Harries, Lorna W., Hattersley, Andrew T., Ellard, Sian, Bingham, Coralie

“…Background. Hepatocyte nuclear factor-1β (HNF-1β) is a critical transcription factor in pancreatic and renal development. Our previous report identified HNF-1β…”
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