Search Results - Alice Gardham

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  1. 1

    Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP by Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco

    Published in EMBO Molecular Medicine (2023-01-01)
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  2. 2

    Biallelic Variants in <i>MNS1</i> Are Associated with Laterality Defects and Respiratory Involvement by Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

    Published in Cells (2024-06-01)
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  3. 3

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis by Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

    Published in Molecular Genetics & Genomic Medicine (2023-12-01)
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  4. 4

    Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models by Fangfang Zhang, Tatjana Dorn, Barbara Gnutti, Yair Anikster, Sarah Kuebler, Rebecca Ahrens-Nicklas, Rachel Gosselin, Shamima Rahman, Ronen Durst, Enrica Zanuttigh, Miriam A. Güra, Christine M. Poch, Anna B. Meier, Karl-Ludwig Laugwitz, Hans-Joachim Schüller, Ana C. Messias, Ody C. Sibon, Dario Finazzi, Alyssa Rippert, Dong Li, Kristen Truxal, Deipanjan Nandi, Brent C. Lampert, Mildrid Yeo, Alice Gardham, Batel Nissan, Smadar Horowitz Cederboim, Alessandra Moretti, Arcangela Iuso

    Published in Communications Medicine (2025-07-01)
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  5. 5

    Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor by Raman Kumar, Elizabeth Palmer, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Dian Donnai, Ype Elgersma, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Dimitar N. Azmanov, Vanessa Atkinson, Vanessa Atkinson, Michael Black, Michael Black, Gareth Baynam, Lauren Dreyer, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz, Jozef Gecz

    Published in Frontiers in Molecular Neuroscience (2020-02-01)
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  6. 6

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

    Published in Nature Communications (2023-02-01)
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  7. 7

    Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation by Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Melissa Hill, Rhiannon Mellis, Rhiannon Mellis, Wing Han Wu, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson

    Published in Frontiers in Genetics (2024-11-01)
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