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1. The Expanding Role of Genetics in Cerebral Palsy
by Emrick, Lisa T and DiCarlo, Shannon M
Physical medicine and rehabilitation clinics of North America, ISSN 1047-9651, 02/2020, Volume 31, Issue 1, p. 15
Life Sciences & Biomedicine | Rehabilitation | Science & Technology
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2. Full Text Clinical Reasoning: Ventriculomegaly detected on 20-week anatomic fetal ultrasound
by Stowe, Robert C and Lyons-Warren, Ariel M and Emrick, Lisa
Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 13, pp. e1265 - e1268
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Diagnosis, Differential | Humans | Neural Cell Adhesion Molecule L1 - genetics | Male | Brain - growth & development | Pregnancy | Young Adult | Magnetic Resonance Imaging | Ultrasonography, Prenatal | Hydrocephalus - diagnostic imaging | Female | Hydrocephalus - genetics | Infant, Newborn
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3. Full Text Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
by Poli, M. Cecilia and Ebstein, Frédéric and Nicholas, Sarah K and de Guzman, Marietta M and Forbes, Lisa R and Chinn, Ivan K and Mace, Emily M and Vogel, Tiphanie P and Carisey, Alexandre F and Benavides, Felipe and Coban-Akdemir, Zeynep H and Gibbs, Richard A and Jhangiani, Shalini N and Muzny, Donna M and Carvalho, Claudia M.B and Schady, Deborah A and Jain, Mahim and Rosenfeld, Jill A and Emrick, Lisa and Lewis, Richard A and Lee, Brendan and Zieba, Barbara A and Küry, Sébastien and Krüger, Elke and Lupski, James R and Bostwick, Bret L and Orange, Jordan S and Undiagnosed Diseases Network members and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1126 - 1142
nonsense-mediated decay | POMP-related autoinflammation and immune dysregulation disease | primary immune deficiency | POMP | interferonopathy | autoinflammatory syndrome | PRAID | PID | core particle proteasome 20S | dominant negative | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inflammation - pathology | Humans | Male | RNA, Messenger - metabolism | Base Sequence | Interferon Type I - metabolism | Frameshift Mutation - genetics | Infant, Newborn | Cell Line | Genetic Predisposition to Disease | RNA, Messenger - genetics | Molecular Chaperones - genetics | Exons - genetics | Immunophenotyping | Mutant Proteins - metabolism | Mutation - genetics | Unfolded Protein Response | Syndrome | Phenotype | Endoplasmic Reticulum Stress | Immunologic Deficiency Syndromes - genetics | Family | Heterozygote | Nonsense Mediated mRNA Decay - genetics | Proteasome Endopeptidase Complex - metabolism | Autoimmunity | Medical colleges | Interferon | RNA | Immunodeficiency | Physiological aspects | Immunologic diseases | Genetic aspects | Research | Genetic variation | Risk factors | Index Medicus
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4. Full Text Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome
by El-Hattab, Ayman W and Emrick, Lisa T and Chanprasert, Sirisak and Craigen, William J and Scaglia, Fernando
The international journal of biochemistry & cell biology, ISSN 1357-2725, 03/2014, Volume 48, Issue 1, pp. 85 - 91
Stroke-like episodes | Nitric oxide synthase (NOS) | Lactic acidosis | Nitric oxide (NO) | Myopathy | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Citrulline - pharmacology | Mitochondria - genetics | Nitric Oxide - deficiency | Arginine - pharmacology | Humans | MELAS Syndrome - drug therapy | MELAS Syndrome - metabolism | Mitochondria - metabolism | Citrulline - therapeutic use | Mitochondria - drug effects | Arginine - therapeutic use | Nitric Oxide - metabolism | Mitochondrial DNA | Arginine | Health aspects | Nitric oxide | Cells | Medical genetics | Index Medicus | Mitochondria | Utilities | Precursors | Disorders | Biochemistry | Biology | Acidosis | Blood
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5. Full Text Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
by Koenig, Mary Kay and Emrick, Lisa and Karaa, Amel and Korson, Mark and Scaglia, Fernando and Parikh, Sumit and Goldstein, Amy
JAMA neurology, ISSN 2168-6149, 05/2016, Volume 73, Issue 5, pp. 591 - 594
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Disease Management | MELAS Syndrome - therapy | MELAS Syndrome - diagnosis | Humans | Index Medicus | Abridged Index Medicus
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6. Full Text Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
by Johnston, Jennifer J and van der Smagt, Jasper J and Rosenfeld, Jill A and Pagnamenta, Alistair T and Alswaid, Abdulrahman and Baker, Eva H and Blair, Edward and Borck, Guntram and Brinkmann, Julia and Craigen, William and Dung, Vu Chi and Emrick, Lisa and Everman, David B and van Gassen, Koen L and Gulsuner, Suleyman and Harr, Margaret H and Jain, Mahim and Kuechler, Alma and Leppig, Kathleen A and McDonald-McGinn, Donna M and Can, Ngoc Thi Bich and Peleg, Amir and Roeder, Elizabeth R and Rogers, R Curtis and Sagi-Dain, Lena and Sapp, Julie C and Schäffer, Alejandro A and Schanze, Denny and Stewart, Helen and Taylor, Jenny C and Verbeek, Nienke E and Walkiewicz, Magdalena A and Zackai, Elaine H and Zweier, Christiane and Zenker, Martin and Lee, Brendan and Biesecker, Leslie G and Members Undiagnosed Dis Network and Members of the Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
leukemia | multiple congenital anomalies | autosomal recessive inheritance | cardiomyopathy | Noonan syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Child, Preschool | Genotype | Infant | Male | Transcription Factors - genetics | Noonan Syndrome - genetics | Noonan Syndrome - pathology | Exome - genetics | Pedigree | RNA Splicing - genetics | Adolescent | Female | Heterozygote | Mutation | Child | Genetic Linkage | Protein Isoforms - genetics | Siblings | Families & family life | Index Medicus
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7. Full Text Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
by Nicoli, Elena-Raluca and Weston, Mary R and Hackbarth, Mary and Becerril, Alissa and Larson, Austin and Zein, Wadih M and Baker, Peter R and Burke, John Douglas and Dorward, Heidi and Davids, Mariska and Huang, Yan and Adams, David R and Zerfas, Patricia M and Chen, Dong and Markello, Thomas C and Toro, Camilo and Wood, Tim and Elliott, Gene and Vu, Mylinh and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1127 - 1138
chloroquine | lysosomal pH | lysosomal membrane counterion | lysosomal storage disease | cutaneous albinism | ClC-7 antiporter | lysosomal hyperacidity | oculocutaneous albinism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Acids - chemistry | Oocytes - metabolism | Humans | Xenopus laevis | Infant | Male | Chloride Channels - genetics | Albinism - etiology | Fibroblasts - pathology | Lysosomal Storage Diseases - pathology | Genetic Variation | Animals | Lysosomes - metabolism | Albinism - metabolism | Albinism - pathology | Lysosomal Storage Diseases - metabolism | Female | Mice | Lysosomal Storage Diseases - etiology | Chloride Channels - physiology | Fibroblasts - metabolism | Hydrogen-Ion Concentration | Metabolism, Inborn errors of | Usage | Diagnosis | Nucleotide sequencing | Risk factors | DNA sequencing | Index Medicus
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8. Full Text Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
by Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Rosenfeld, Jill A and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and ... and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network and Univ Washington Ctr Mendelian and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Osteochondrodysplasias - pathology | Humans | Child, Preschool | Musculoskeletal Abnormalities - pathology | Genetic Variation | Young Adult | Osteochondrodysplasias - genetics | Adult | Female | Child | Chromosomal Instability | Fibroblasts - metabolism | Genetic Association Studies | Cells, Cultured | Zebrafish | Fibroblasts - pathology | Mice, Knockout | Whole Exome Sequencing | Animals | NF-kappa B - genetics | Musculoskeletal Abnormalities - genetics | Adolescent | Alleles | Mice | DNA Damage | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors | Index Medicus
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9. Full Text De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
by Accogli, Andrea and Calabretta, Sara and St-Onge, Judith and Boudrahem-Addour, Nassima and Dionne-Laporte, Alexandre and Joset, Pascal and Azzarello-Burri, Silvia and Rauch, Anita and Krier, Joel and Fieg, Elizabeth and Pallais, Juan C and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Hayes, Nichole and High, Frances and ... and Undiagnosed Diseases Network
American journal of human genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
cell-cell adhesion | CDH2 | ACOG | N-cadherin | eye defects | genital defects | cardiac defects | corpus callosum | intellectual disability | Care and treatment | Cell adhesion | Nervous system | Degeneration | Genetic aspects | Research | Risk factors | Membrane proteins | Life Sciences | Cellular Biology | Human health and pathology | Report
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