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Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Published in:
2021
By:
- Lazarte, Julieta;
- Laksman, Zachary W;
- Wang, Jian;
- Robinson, John F;
- Dron, Jacqueline S;
- Leach, Emma;
- Liew, Janet;
- McIntyre, Adam D;
- Skanes, Allan C;
- Gula, Lorne J;
- Leong-Sit, Peter;
- Cao, Henian;
- Trost, Brett;
- Scherer, Stephen W;
- Hegele, Robert A;
- Roberts, Jason D
Publication type:
journal article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-126
By:
- Lahiry, Piya;
- Racacho, Lemuel;
- Jian Wang;
- Robinson, John F.;
- Gloor, Gregory B.;
- Anthony Rupar, C.;
- Siu, Victoria M.;
- Bulman, Dennis E.;
- Hegele, Robert A.
Publication type:
Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
Published in:
2013
By:
- Lahiry, Piya;
- Racacho, Lemuel;
- Wang, Jian;
- Robinson, John F;
- Gloor, Gregory B;
- Rupar, C Anthony;
- Siu, Victoria M;
- Bulman, Dennis E;
- Hegele, Robert A
Publication type:
journal article
Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.
Published in:
2019
By:
- Zhang, Ming;
- Dilliott, Allison A;
- Khallaf, Roaa;
- Robinson, John F;
- Hegele, Robert A;
- Comishen, Michael;
- Sato, Christine;
- Tosto, Giuseppe;
- Reitz, Christiane;
- Mayeux, Richard;
- George-Hyslop, Peter St;
- Freedman, Morris;
- Rogaeva, Ekaterina
Publication type:
journal article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 9, p. e106, doi. 10.1111/epi.12730
By:
- Farhan, Sali M. K.;
- Murphy, Lisa M.;
- Robinson, John F.;
- Wang, Jian;
- Siu, Victoria M.;
- Rupar, C. Anthony;
- Prasad, Asuri N.;
- Hegele, Robert A.
Publication type:
Article
MRI of early- and late-stage arterial remodeling in a low-level cholesterol-fed rabbit model of atherosclerosis.
Published in:
Journal of Magnetic Resonance Imaging, 2007, v. 26, n. 4, p. 1010, doi. 10.1002/jmri.21113
By:
- Ronald, John A.;
- Walcarius, Rhonda;
- Robinson, John F.;
- Hegele, Robert A.;
- Rutt, Brian K.;
- Rogers, Kem A.
Publication type:
Article
Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging.
Published in:
BMC Medical Imaging, 2007, v. 7, p. 3, doi. 10.1186/1471-2342-7-3
By:
- Al-Attar, Salam A;
- Pollex, Rebecca L;
- Robinson, John F;
- Miskie, Brooke A;
- Walcarius, Rhonda;
- Little, Cynthia Harper;
- Rutt, Brian K;
- Hegele, Robert A
Publication type:
Article
Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome.
Published in:
BMC Medical Imaging, 2006, v. 6, p. 11, doi. 10.1186/1471-2342-6-11
By:
- Al-Attar, Salam A.;
- Pollex, Rebecca L.;
- Robinson, John F.;
- Miskie, Brooke A.;
- Walcarius, Rhonda;
- Rutt, Brian K.;
- Hegele, Robert A.
Publication type:
Article
Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.
Published in:
Clinical Genetics, 2019, v. 96, n. 4, p. 376, doi. 10.1111/cge.13599
By:
- Berberich, Amanda J.;
- Mokashi, Arati;
- McIntyre, Adam D.;
- Robinson, John F.;
- Cao, Henian;
- Wang, Jian;
- Hegele, Robert A.
Publication type:
Article
Direct evidence for meteorologically driven long-range dispersal of an economically important moth
Published in:
Ecology, 1989, v. 70, n. 4, p. 987, doi. 10.2307/1941366
By:
- Showers, William B.;
- Keaster, Armon J.;
- Whitford, Fred;
- Robinson, John F.;
- Lopez, Juan D.;
- Smelser, Richard B.;
- Taylor, S. Elwynn
Publication type:
Article
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 21, p. 4278, doi. 10.1093/hmg/ddx316
By:
- Farhan, Sali M. K.;
- Nixon, Kevin C. J.;
- Everest, Michelle;
- Edwards, Tara N.;
- Long, Shirley;
- Segal, Dmitri;
- Knip, Maria J.;
- Arts, Heleen H.;
- Chakrabarti, Rana;
- Jian Wang;
- Robinson, John F.;
- Lee, Donald;
- Mirsattari, Seyed M.;
- Rupar, C. Anthony;
- Siu, Victoria M.;
- Poulter, Michael O.;
- Hegele, Robert A.;
- Kramer, Jamie M.
Publication type:
Article
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Published in:
BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0669-2
By:
- Dron, Jacqueline S.;
- Wang, Jian;
- McIntyre, Adam D.;
- Iacocca, Michael A.;
- Robinson, John F.;
- Ban, Matthew R.;
- Cao, Henian;
- Hegele, Robert A.
Publication type:
Article
Targeted next generation sequencing as a tool for precision medicine.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0527-2
By:
- Gulilat, Markus;
- Lamb, Tyler;
- Teft, Wendy A.;
- Wang, Jian;
- Dron, Jacqueline S.;
- Robinson, John F.;
- Tirona, Rommel G.;
- Hegele, Robert A.;
- Kim, Richard B.;
- Schwarz, Ute I.
Publication type:
Article
Exercise Testing in the Diagnosis of Sick Sinus Syndrome in the Elderly: Implications for Treatment.
Published in:
Pacing & Clinical Electrophysiology, 1987, v. 10, n. 4, p. 831, doi. 10.1111/j.1540-8159.1987.tb06040.x
By:
- Johnston, Fiona A.;
- Robinson, John F.;
- Fyfe, Thomas
Publication type:
Article
Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young.
Published in:
2019
By:
- Berberich, Amanda J;
- Huot, Céline;
- Cao, Henian;
- McIntyre, Adam D;
- Robinson, John F;
- Wang, Jian;
- Hegele, Robert A
Publication type:
journal article
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).
Published in:
Clinical & Investigative Medicine, 2004, v. 27, n. 3, p. 135
By:
- McKinney, James L.;
- Cao, Henian;
- Robinson, John F.;
- Metzger, Daniel L.;
- Cummings, Elizabeth;
- Riddell, D. Christie;
- Sanderson, Susan R.;
- Pacaud, Daniele;
- Ho, Josephine;
- Hegele, Robert A.
Publication type:
Article
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
Published in:
Canadian Journal of Neurological Sciences, 2019, v. 46, n. 5, p. 491, doi. 10.1017/cjn.2019.228
By:
- Dilliott, Allison A.;
- Evans, Emily C.;
- Farhan, Sali M.K.;
- Ghani, Mahdi;
- Sato, Christine;
- Zhang, Ming;
- McIntyre, Adam D.;
- Cao, Henian;
- Racacho, Lemuel;
- Robinson, John F.;
- Strong, Michael J.;
- Masellis, Mario;
- Bulman, Dennis E.;
- Rogaeva, Ekaterina;
- Black, Sandra E.;
- Finger, Elizabeth;
- Frank, Andrew;
- Freedman, Morris;
- Hassan, Ayman;
- Lang, Anthony
Publication type:
Article
27-OR: Simplifying Detection of Large Scale Deletions Causing MODY5.
Published in:
Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-27-OR
By:
- BERBERICH, AMANDA J.;
- WANG, JIAN;
- CAO, HENIAN;
- MCINTYRE, ADAM D.;
- ROBINSON, JOHN F.;
- YANG, PING;
- KNOLL, JOAN;
- HEGELE, ROBERT
Publication type:
Article

Found: 18