Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (84) 84
life sciences & biomedicine (80) 80
humans (71) 71
female (51) 51
male (47) 47
life sciences (36) 36
adult (31) 31
child (30) 30
genetics & heredity (30) 30
child, preschool (26) 26
neurosciences & neurology (24) 24
clinical neurology (22) 22
genetics (22) 22
infant (22) 22
mutation (22) 22
adolescent (21) 21
biological and medical sciences (19) 19
medical sciences (19) 19
pediatrics (17) 17
young adult (17) 17
neurology (16) 16
phenotype (16) 16
genetic aspects (13) 13
france (12) 12
human health and pathology (12) 12
research (12) 12
middle aged (11) 11
abridged index medicus (10) 10
medicine (10) 10
medicine, research & experimental (10) 10
quality of life (10) 10
research & experimental medicine (10) 10
[sdv.gen]life sciences [q-bio]/genetics (9) 9
hematology (9) 9
infant, newborn (9) 9
epilepsy (8) 8
genotype (8) 8
medical genetics (8) 8
analysis (7) 7
animals (7) 7
enzyme replacement therapy (7) 7
gaucher disease (7) 7
gaucher disease - physiopathology (7) 7
gene mutations (7) 7
neurons and cognition (7) 7
risk factors (7) 7
syndrome (7) 7
[sdv]life sciences [q-bio] (6) 6
cross-sectional studies (6) 6
disease (6) 6
dna mutational analysis (6) 6
enzymes (6) 6
gaucher disease - diagnosis (6) 6
genes (6) 6
genetic disorders (6) 6
genetic predisposition to disease (6) 6
health aspects (6) 6
intellectual disability - genetics (6) 6
mutation - genetics (6) 6
neurosciences (6) 6
patients (6) 6
pharmacology (6) 6
retrospective studies (6) 6
surveys and questionnaires (6) 6
treatment outcome (6) 6
abnormalities, multiple - genetics (5) 5
age of onset (5) 5
biochemistry & molecular biology (5) 5
care and treatment (5) 5
children (5) 5
cohort studies (5) 5
diagnosis (5) 5
gaucher disease - blood (5) 5
gaucher disease - therapy (5) 5
glucosylceramidase - therapeutic use (5) 5
human genetics (5) 5
magnetic resonance imaging (5) 5
pedigree (5) 5
prognosis (5) 5
research article (5) 5
biology (4) 4
brain - pathology (4) 4
caregivers (4) 4
cell biology (4) 4
diseases of striated muscles. neuromuscular diseases (4) 4
follow-up studies (4) 4
gaucher disease - drug therapy (4) 4
gaucher disease - pathology (4) 4
gaucher's disease (4) 4
general & internal medicine (4) 4
genotype & phenotype (4) 4
humanities (4) 4
medical research (4) 4
medicine, experimental (4) 4
medicine, general & internal (4) 4
nervous system diseases (4) 4
patient outcomes (4) 4
physical sciences (4) 4
proteins (4) 4
psychology (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text A review of gaucher disease pathophysiology, clinical presentation and treatments
by Stirnemann, Jér Ôme and Belmatoug, Nadia and Camou, Fabrice and Serratrice, Christine and Froissart, Roseline and Caillaud, Catherine and Levade, Thierry and Astudillo, Leonardo and Serratrice, Jacques and Brassier, Anaïs and Rose, Christian and De Villemeur, Thierry Billette and Berger, Marc G
International journal of molecular sciences, ISSN 1661-6596, 02/2017, Volume 18, Issue 2, pp. 441 - 441
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Monitoring, Physiologic | Prognosis | Metabolic Networks and Pathways | Models, Biological | Humans | Gaucher Disease - epidemiology | Gaucher Disease - physiopathology | Gaucher Disease - therapy | Gaucher Disease - diagnosis | Enzymes | Bone lesions | Mutation | Index Medicus | Life Sciences | Hematology | Human health and pathology | Gaucher disease | enzyme replacement therapy | GBA1 gene | lysosomal storage disease | biomarkers | substrate reduction therapy | Review | glucocerebrosidase
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
by Passemard, S and Titomanlio, L and Elmaleh, M and Afenjar, A and Alessandri, J.-L and Andria, G and De Villemeur, T Billette and Boespflug-Tanguy, O and Burglen, L and Del Giudice, E and Guimiot, F and Hyon, C and Isidor, B and Mégarbané, A and Moog, U and Odent, S and Hernandez, K and Pouvreau, N and Scala, I and Schaer, M and Gressens, P and Gerard, B and Verloes, Alain
Neurology, ISSN 0028-3878, 2009, Volume 73, Issue 12, pp. 962 - 969
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Genetic Testing | Microcephaly - genetics | Seizures - genetics | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Head - pathology | Intellectual Disability - genetics | Young Adult | Seizures - physiopathology | Pyramidal Tracts - physiopathology | DNA Mutational Analysis | Skull - pathology | Microcephaly - pathology | Skull - abnormalities | Head - diagnostic imaging | Adult | Female | Child | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease - genetics | Genotype | Microcephaly - diagnostic imaging | Mutation - genetics | Nerve Tissue Proteins - genetics | Intellectual Disability - physiopathology | Radiography | Magnetic Resonance Imaging | Phenotype | Head - abnormalities | Skull - diagnostic imaging | Adolescent | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics | Development Biology | Neurons and Cognition
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text The French Gaucher's disease registry: Clinical characteristics, complications and treatment of 562 patients
by Stirnemann, Jérôme and Vigan, Marie and Hamroun, Dalil and Heraoui, Djazia and Rossi-Semerano, Linda and Berger, Marc G and Rose, Christian and Camou, Fabrice and De Roux-Serratrice, Christine and Grosbois, Bernard and Kaminsky, Pierre and Robert, Alain and Caillaud, Catherine and Froissart, Roselyne and Levade, Thierry and Masseau, Agathe and Mignot, Cyril and Sedel, Frédéric and Dobbelaere, Dries and Vanier, Marie T and Valayanopoulos, Vassili and Fain, Olivier and Fantin, Bruno and De Villemeur, Thierry Billette and Mentré, France and Belmatoug, Nadia
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 77 - 77
French Gaucher's Disease Registry | Enzyme-replacement therapy | Bone events | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | France - epidemiology | Humans | Middle Aged | Child, Preschool | Gaucher Disease - epidemiology | Infant | Male | Gaucher Disease - complications | Gaucher Disease - pathology | Gaucher Disease - therapy | Incidence | Splenectomy | Young Adult | Adolescent | Adult | Female | Aged | Child | Infant, Newborn | Disease | Health insurance | Public health | Index Medicus | Life Sciences | Genetics | Research | French Gaucher’s Disease Registry
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
by Depienne, Christel and Nava, Caroline and Keren, Boris and Heide, Solveig and Rastetter, Agnès and Passemard, Sanine and Chantot-Bastaraud, Sana and Moutard, Marie-Laure and Agrawal, Pankaj B and VanNoy, Grace and Stoler, Joan M and Amor, David J and Billette de Villemeur, Thierry and Doummar, Diane and Alby, Caroline and Cormier-Daire, Valérie and Garel, Catherine and Marzin, Pauline and Scheidecker, Sophie and de Saint-Martin, Anne and Hirsch, Edouard and Korff, Christian and Bottani, Armand and Faivre, Laurence and Verloes, Alain and Orzechowski, Christine and Burglen, Lydie and Leheup, Bruno and Roume, Joelle and Anieux, Joris and Sheth, Frenny and Datar, Chaitanya and Parker, Michael J and Pasquier, Laurent and Odent, Sylvie and Naudion, Sophie and Delrue, Marie-Ange and Le Caignec, Céic and Vincent, Marie and Isidor, Bertrand and Renaldo, Florence and Stewart, Fiona and Toutain, Annick and Koehler, Udo and Verbeek, Nienke E and van Haelst, Mieke M and de Kovel, Carolien and Koeleman, Bobby and Monroe, Glen and van Haaften, Gijs and DDD Study
Human genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 463 - 479
Journal Article | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Phenotype | Chromosomes, Human, Pair 1 | Humans | Repressor Proteins - genetics | Neurodevelopmental Disorders - genetics | Mutation | Gene mutations | Epilepsy | Surgery | Genes | Genetic research | Genetic aspects | Index Medicus | Life Sciences | Genetics | Original Investigation | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: Confirmation of a recognizable phenotype and first description of a male mosaic patient
by Burglen, Lydie and Chantot-Bastaraud, Sandra and Garel, Catherine and Milh, Mathieu and Touraine, Renaud and Zanni, Ginevra and Petit, Florence and Afenjar, Alexandra and Goizet, Cyril and Barresi, Sabina and Coussement, Aurélie and Ioos, Christine and Lazaro, Leila and Joriot, Sylvie and Desguerre, Isabelle and Lacombe, Didier and Des Portes, Vincent and Bertini, Enrico and Siffroi, Jean-Pierre and Billette De Villemeur, Thierry and Rodriguez, Diana
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 18 - 18
Pontocerebellar hypoplasia | Array-CGH | Mosaicism | Microcephaly | CASK gene | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Guanylate Kinases - genetics | Phenotype | Olivopontocerebellar Atrophies - genetics | Humans | Female | Male | Mutation | X Chromosome Inactivation | Care and treatment | Gene mutations | Patient outcomes | Nervous system | Degeneration | Genetic aspects | Diagnosis | Health aspects | Risk factors | Index Medicus | Life Sciences | Genetics | Research
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
by Rousseau, Marie-Christine and Baumstarck, Karine and Alessandrini, Marine and Blandin, Véronique and Billette De Villemeur, Thierry and Auquier, Pascal
Orphanet journal of rare diseases, ISSN 1750-1172, 07/2015, Volume 10, Issue 1, pp. 88 - 88
Locked-in-syndrome | Determinants | Anamnestic Comparative Self-Assessment | Quality of life | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sickness Impact Profile | Health Status Indicators | Humans | Middle Aged | Self Report | Male | Quadriplegia - psychology | Socioeconomic Factors | Health Surveys | Value of Life | Adult | Female | Surveys and Questionnaires | Quality of Life - psychology | Surveys | Care and treatment | Quadriplegia | Index Medicus | Life Sciences | Human health and pathology | Research
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
by Valence, Stéphanie and Cochet, Emmanuelle and Rougeot, Christelle and Garel, Catherine and Chantot-Bastaraud, Sandra and Lainey, Elodie and Afenjar, Alexandra and Barthez, Marie-Anne and Bednarek, Nathalie and Doummar, Diane and Faivre, Laurence and Goizet, Cyril and Haye, Damien and Heron, Bénédicte and Kemlin, Isabelle and Lacombe, Didier and Milh, Mathieu and Moutard, Marie-Laure and Riant, Florence and Robin, Stéphanie and Roubertie, Agathe and Sarda, Pierre and Toutain, Annick and Villard, Laurent and Ville, Dorothée and Billette de Villemeur, Thierry and Rodriguez, Diana and Burglen, Lydie
Genetics in medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 553 - 563
Cerebellar atrophy | Congenital ataxia | exome sequencing | Early infantile epileptic encephalopathies | Pathophysiology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxia - physiopathology | Genetic Predisposition to Disease - genetics | Humans | Child, Preschool | Genotype | Male | Spasms, Infantile - genetics | Mutation - genetics | Whole Exome Sequencing - methods | Genetic Heterogeneity | Young Adult | Exome - genetics | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Female | Ataxia - genetics | France | Child | Cohort Studies | Ataxia | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
by Héron, Bénédicte and Valayannopoulos, Vassili and Baruteau, Julien and Chabrol, Brigitte and Ogier, Hélène and Latour, Philippe and Dobbelaere, Dries and Eyer, Didier and Labarthe, François and Maurey, Hélène and Cuisset, Jean-Marie and De Villemeur, Thierry Billette and Sedel, Frédéric and Vanier, Marie T
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 36 - 36
Miglustat | Niemann-Pick disease type C | Paediatric | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glycoproteins - genetics | Niemann-Pick Disease, Type C - drug therapy | Prospective Studies | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Niemann-Pick Disease, Type C - physiopathology | Enzyme Inhibitors - therapeutic use | Membrane Glycoproteins - genetics | Enzyme Inhibitors - administration & dosage | 1-Deoxynojirimycin - therapeutic use | Carrier Proteins - genetics | Adolescent | Age of Onset | 1-Deoxynojirimycin - administration & dosage | 1-Deoxynojirimycin - analogs & derivatives | Female | France | Niemann-Pick Disease, Type C - genetics | Child | Cohort Studies | Pick's disease | Niemann-Pick disease | Medical research | Care and treatment | Nervous system diseases | Gene mutations | Cable television broadcasting industry | Medicine, Experimental | Development and progression | Research | Biotechnology industry | Disease | Meetings | Medical treatment | Genetics | Teenagers | Manuscripts | Pharmaceuticals | Index Medicus | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights