Хайлтын үр дүнгүүд - Giles Atton
- 4-н 1 - 4 үр дүнгүүдийг харуулж байна
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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis -н Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, M Snyder, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard
Хэвлэсэн 2015Artigo -
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EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis -н Silvia Martin‐Almedina, Inés Martínez‐Corral, Rita Holdhus, Andres Vicente, Elisavet Fotiou, Shin Lin, Kjell Petersen, Michael A. Simpson, Alexander Hoischen, Christian Gilissen, Heather Jeffery, Giles Atton, Christina Karapouliou, Glen Brice, Kristiana Gordon, John Wiseman, Marianne Wedin, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, M Snyder, Siren Berland, Sahar Mansour, Taija Mäkinen, Pia Østergaard
Хэвлэсэн 2016Artigo -
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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy -н Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kāri Stefánsson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ãngel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest Turro
Хэвлэсэн 2025Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Genetics
Lymphatic system
Medicine
Pathology
Breast cancer
Cancer
Fetus
Hydrops fetalis
Immunology
Internal medicine
Lymphedema
Pregnancy
Bioinformatics
Dermatology
Dysplasia
Epilepsy
Gene
Immune dysregulation
Immune system
Ion channel
Lymphatic Endothelium
Mechanosensitive channels
Mutation
Neuroscience
PIEZO1
Pediatrics
Receptor
Turner syndrome