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Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 5, pp. 1143 - 1150
Journal Article
Journal Article
Journal Article
Journal Article
by Evans, DG and Hartley, CL and Smith, PT and King, AT and Bowers, NL and Tobi, S and Wallace, AJ and Perry, M and Anup, R and Lloyd, SKW and Rutherford, SA and Hammerbeck-Ward, C and Pathmanaban, ON and Stapleton, E and Freeman, SR and Kellett, M and Halliday, D and Parry, A and Gair, JJ and Axon, P and Laitt, R and Thomas, O and Afridi, SK and Obholzer, R and Duff, C and Stivaros, SM and Vassallo, G and Harkness, EF and Smith, MJ and Gair, J and Tysome, J and Donnelly, N and Raymond, L and Hensiek, A and Jena, R and Macfarlane, R and Mannion, R and Nicholson, J and Muthusamy, B and Taylor, A and Price, R and Rands, G and Gamazo, N and Vanat, Z and Scoffings, D and Jefferies, S and Knight, R and Lamb, T and Tam, YC and Foweraker, K and Harris, F and Sanghera, P and Meade, S and Irving, R and Monksfield, P and Sharif, S and Ragge, N and Murrell, M and Barwell, J and English, M and Doherty, G and Trivedi, R and Patterson, I and Ferner, RE and Williams, V and Hammond, C and Lascelles, K and Skilbeck, C and Saeed, S and Shaw, A and Swampillai, A and Thomson, S and Thomas, N and Maratos, E and Barazi, S and Mullin, R and Henley, S and Trump, S and Everett, V and Nunn, T and Nduka, C and Jarvis, N and Kamaly-Asl, I and Kilday, JP and Lloyd, SK and Malluci, C and Mawman, D and McBain, C and O'Driscoll, M and McCabe, M and Henshaw, K and Hammerbeck-Ward, CL and Kurian, J and Hobbs, C and Browne, K and Castle, B and Crabtree, R and Cogswell, L and Dalton, L and Dodridge, C and ... and English Specialist NF Res Grp and English Specialist NF research group and The English Specialist NF research group
GENETICS IN MEDICINE, ISSN 1098-3600, 01/2020, Volume 22, Issue 1, pp. 53 - 59
Purpose To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2). Methods Patients fulfilling NF2 criteria, but with no known affected... 
MORTALITY | GERMLINE | TUMOR-PRONE SYNDROMES | PREVALENCE | SOMATIC MOSAICISM | REARRANGEMENTS | PREDICTORS | mosaicism | MUTATION | GENETICS & HEREDITY | neurofibromatosis type 2 | NF2 | LZTR1 | DIAGNOSTIC-CRITERIA | schwannoma | NEUROFIBROMATOSIS TYPE-2
Journal Article
CIRP Annals - Manufacturing Technology, ISSN 0007-8506, 2007, Volume 56, Issue 2, pp. 687 - 711
Surfaces are the primary place of contact between a biomaterial and its host organism. Typically, prostheses have to fulfil demanding structural and mechanical... 
Metrology | Biomedical | Surface | GUIDE LIGHTMODE SPECTROSCOPY | surface | PROTEIN ADSORPTION-KINETICS | metrology | TITANIUM | biomedical | ION MASS-SPECTROMETRY | COATINGS | TISSUE-RESPONSE | ENGINEERING, MANUFACTURING | ENGINEERING, INDUSTRIAL | CELL | IN-SITU | ROUGHNESS MEASUREMENT | SOFT CONTACT-LENSES
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 04/2020, Volume 22, Issue 4, pp. 745 - 751
Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here... 
DIAGNOSIS | DISEASES | clinical utility | GENETICS & HEREDITY | congenital cataract | MUTATIONS | SPECTRUM | inherited eye disease | inherited retinal disease | albinism | Cataracts | Genetic testing | Preschool children | Albinism
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
Journal of Research in Interprofessional Practice and Education, ISSN 1916-7342, 05/2015, Volume 5, Issue 1
Abstract   Background  This Community Service-Learning Project (CSLP) at the University of Saskatchewan is designed to help students develop patient-centred... 
Community service | Students | Pharmacy | Service learning
Journal Article
BMC Pulmonary Medicine, ISSN 1471-2466, 12/2017, Volume 17, Issue 1, pp. 192 - 9
Background: Excessive daytime sleepiness may be determined by a number of factors including personal characteristics, co-morbidities and socio-economic... 
First Nations | Poverty | Co-morbidities | Indigenous | Sleepiness | Epworth sleepiness scale | Snoring | DEPRESSION | APNEA | RISK-FACTORS | ADULTS | SYMPTOMS | PREVALENCE | GENERAL-POPULATION | RESPIRATORY SYSTEM | CARDIOVASCULAR-DISEASE | HEALTH | SCALE | Medical research | Analysis | Canadian native peoples | Medicine, Experimental | Reservations | Research | Economic conditions | Native Americans
Journal Article
2013, ISBN 1848608764
Author Pamilla Ramsden presents a thorough understanding of abnormal psychology for undergraduate students with a focus on the integration of psychology,... 
Book Chapter
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