Rezultaty - Alison Kraus

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  1. 1
    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype od Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong‐Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman

    Wydane 2017
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  2. 2
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder od Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Wydane 2018
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  3. 3
    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study od Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Marie Erwood, David Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah B. Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimée Challenger, Sophie C. Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola S. Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Sarah Wynn, Beverley A. Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn R. Maher, Usha Kini, Fleur van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, David Skuse, F. Lucy Raymond, David Skuse, F. Lucy Raymond

    Wydane 2022
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  4. 4
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome od Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    Wydane 2017
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