Septo-optic dysplasia

Por Webb, Emma A, Dattani, Mehul T
Publicado em 2010

Repetitive Stimulation of the Pituitary with Growth-Hormone-Releasing Hormone Alters the Proportion of 22 and 20 Kilodalton Human-Growth Hormone Released

Por Webb, Emma A., Pringle, P. Jane, Robinson, Iain C. A. F., Hindmarsh, Peter C.
Publicado em 2010

Reduced Ventral Cingulum Integrity and Increased Behavioral Problems in Children with Isolated Optic Nerve Hypoplasia and Mild to Moderate or No Visual Impairment

Por Webb, Emma A., O’Reilly, Michelle A., Clayden, Jonathan D., Seunarine, Kiran K., Dale, Naomi, Salt, Alison, Clark, Chris A., Dattani, Mehul T.
Publicado em 2013

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

Por Cabral, Wayne A., Ishikawa, Masaki, Garten, Matthias, Makareeva, Elena N., Sargent, Brandi M., Weis, MaryAnn, Barnes, Aileen M., Webb, Emma A., Shaw, Nicholas J., Ala-Kokko, Leena, Lacbawan, Felicitas L., Högler, Wolfgang, Leikin, Sergey, Blank, Paul S., Zimmerberg, Joshua, Eyre, David R., Yamada, Yoshihiko, Marini, Joan C.
Publicado no PLoS Genet (2016)

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

Por Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang
Publicado no J Clin Endocrinol Metab (2017)

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Por Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., Dattani, Mehul T.
Publicado em 2013