Browsing by Author Stevenson, Roger E
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | Citation |
| 2016 | HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: The results of an X-chromosome exome sequencing study | Ades, Lesley; Craig, Maria; Basehore, Monica J.; Brooks, Susan Sklower; et al, Various; Field, Michael; Friez, M.; Mcgee, Stephen J.; Saxon, Samantha; Sebold, Courtney Drake; Skinner, Cindy; Stevenson, Roger E; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health | HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: The results of an X-chromosome exome sequencing study, BMJ Open, vol.6, 4, 2016,pp 1-9 |
| 2014 | A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domain | Sillence, David; Barnes, Jarrod; Cathey, Sara; Friez, M.; Lebel, Robert Roger; Leroy, Jules G; Steet, Richard; Stevenson, Roger E; Wood, Tim; Childrens Hospital Westmead: Paediatrics & Child Health | A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domain, European Journal of Human Genetics, vol.22, 5, 2014,pp 594-601 |