Browsing by Author Friez, M.

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Issue DateTitleAuthor(s)Citation
2006Early progressive encephalopathy in boys and MECP2 mutations.Christodoulou, John; Ellaway, Carolyn; Jackson, J; Mansour, A; Dure, L. S.; et, al; Fabian, V.; Friez, M.; Kankirawatana, P.; Kiraly-Borri, C.; Lane, J. Michael; Leonard, Helen; Makris, C. M.; Scurlock, J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthEarly progressive encephalopathy in boys and MECP2 mutations., Neurology, vol.67,(1),2006,pp 164-166
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: The results of an X-chromosome exome sequencing studyAdes, 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 HealthHUWE1 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
2014A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domainSillence, 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 HealthA 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