Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Hietamäki, Johanna, Gregory, Louise C, Ayoub, Sandy, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Liu, Xiaonan, Brandstack, Nina, Buckton, Andrew J, Laine, Tiina, Känsäkoski, Johanna, Hero, Matti, Miettinen, Päivi J, Varjosalo, Markku, Wakeling, Emma, Dattani, Mehul T, Raivio, Taneli
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
Get full text
Journal Article
The positive and the negative impacts of spasticity in patients with long-term neurological conditions: an observational study
Ayoub, Sandy, Smith, Jared G, Cary, Isabel, Dalton, Catherine, Pinto, Aimee, Ward, Claire, Saverino, Alessia
Published in Disability and rehabilitation (06.11.2021)
Published in Disability and rehabilitation (06.11.2021)
Get more information
Journal Article
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
Ayoub, Sandy, Ghali, Neeti, Angwin, Chloe, Baker, Duncan, Baffini, Stella, Brady, Angela F., Giovannucci Uzielli, Maria Luisa, Giunta, Cecilia, Johnson, Diana S., Kosho, Tomoki, Neas, Katherine, Pope, F. Michael, Rutsch, Frank, Scarselli, Gloria, Sobey, Glenda, Vandersteen, Anthony, Dijk, Fleur S.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
Get full text
Journal Article