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Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-100
By:
- Wen, Jiadi;
- Lopes, Fátima;
- Soares, Gabriela;
- Farrell, Sandra A.;
- Nelson, Cara;
- Qiao, Ying;
- Martell, Sally;
- Badukke, Chansonette;
- Bessa, Carlos;
- Ylstra, Bauke;
- Lewis, Suzanne;
- Isoherranen, Nina;
- Maciel, Patricia;
- Rajcan-Separovic, Evica
Publication type:
Article
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Published in:
2013
By:
- Wen, Jiadi;
- Lopes, Fátima;
- Soares, Gabriela;
- Farrell, Sandra A;
- Nelson, Cara;
- Qiao, Ying;
- Martell, Sally;
- Badukke, Chansonette;
- Bessa, Carlos;
- Ylstra, Bauke;
- Lewis, Suzanne;
- Isoherranen, Nina;
- Maciel, Patricia;
- Rajcan-Separovic, Evica
Publication type:
journal article
Understanding the impact of 1q21.1 copy number variant.
Published in:
2011
By:
- Harvard, Chansonette;
- Strong, Emma;
- Mercier, Eloi;
- Colnaghi, Rita;
- Alcantara, Diana;
- Chow, Eva;
- Martell, Sally;
- Tyson, Christine;
- Hrynchak, Monica;
- McGillivray, Barbara;
- Hamilton, Sara;
- Marles, Sandra;
- Mhanni, Aziz;
- Dawson, Angelika J;
- Pavlidis, Paul;
- Qiao, Ying;
- Holden, Jeanette J;
- Lewis, Suzanne M E;
- O'Driscoll, Mark;
- Rajcan-Separovic, Evica
Publication type:
journal article
Whole exome sequencing in recurrent early pregnancy loss.
Published in:
Molecular Human Reproduction, 2016, v. 22, n. 5, p. 364, doi. 10.1093/molehr/gaw008
By:
- Ying Qiao;
- Jiadi Wen;
- Flamingo Tang;
- Martell, Sally;
- Shomer, Naomi;
- Leung, Peter C. K.;
- Stephenson, Mary D.;
- Rajcan-Separovic, Evica
Publication type:
Article
Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1782, doi. 10.1002/ajmg.a.38247
By:
- Qiao, Ying;
- Badduke, Chansonette;
- Tang, Flamingo;
- Cowieson, David;
- Martell, Sally;
- Lewis, Suzanne M. E.;
- Peñaherrera, Maria S.;
- Robinson, Wendy P.;
- Volchuk, Allen;
- Rajcan‐Separovic, Evica
Publication type:
Article
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
Published in:
2016
By:
- Dastan, Jila;
- Chieko Chijiwa;
- Tang, Flamingo;
- Martell, Sally;
- Ying Qiao;
- Rajcan-Separovic, Evica;
- Lewis, M. E. Suzanne
Publication type:
Case Study
Functional consequences of copy number variants in miscarriage.
Published in:
Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 72, doi. 10.1186/s13039-015-0109-8
By:
- Jiadi Wen;
- Hanna, Courtney W.;
- Martell, Sally;
- Leung, Peter C.K.;
- Lewis, Suzanne M.E.;
- Robinson, Wendy P.;
- Stephenson, Mary D.;
- Rajcan-Separovic, Evica
Publication type:
Article
Functional consequences of copy number variants in miscarriage.
Published in:
Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0109-8
By:
- Jiadi Wen;
- Hanna, Courtney W.;
- Martell, Sally;
- Leung, Peter C. K.;
- Lewis, Suzanne M. E.;
- Robinson, Wendy P.;
- Stephenson, Mary D.;
- Rajcan-Separovic, Evica
Publication type:
Article
Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 58, doi. 10.1002/humu.22465
By:
- Qiao, Ying;
- Mondal, Kajari;
- Trapani, Valentina;
- Wen, Jiadi;
- Carpenter, Gillian;
- Wildin, Robert;
- Price, E. Magda;
- Gibbons, Richard J.;
- Eichmeyer, Jennifer;
- Jiang, Ruby;
- DuPont, Barbara;
- Martell, Sally;
- Lewis, Suzanne M. E.;
- Robinson, Wendy P.;
- O'Driscoll, Mark;
- Wolf, Federica I.;
- Zwick, Michael E.;
- Rajcan‐Separovic, Evica
Publication type:
Article
Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant.
Published in:
Genes, 2022, v. 13, n. 3, p. 470, doi. 10.3390/genes13030470
By:
- Evans, Daniel R.;
- Qiao, Ying;
- Trost, Brett;
- Calli, Kristina;
- Martell, Sally;
- Jones, Steven J. M.;
- Scherer, Stephen W.;
- Lewis, M. E. Suzanne
Publication type:
Article
Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.
Published in:
Genes, 2021, v. 12, n. 7, p. 1053, doi. 10.3390/genes12071053
By:
- Dhaliwal, Jasleen;
- Qiao, Ying;
- Calli, Kristina;
- Martell, Sally;
- Race, Simone;
- Chijiwa, Chieko;
- Glodjo, Armansa;
- Jones, Steven;
- Rajcan-Separovic, Evica;
- Scherer, Stephen W.;
- Lewis, Suzanne
Publication type:
Article
Effects of glucose on matrix metalloproteinase and plasmin activities in mesangial cells: Possible role in diabetic nephropathy.
Published in:
Kidney International, 2000, v. 58, p. S81, doi. 10.1046/j.1523-1755.2000.07713.x
By:
- Mclennan, Susan V.;
- Fisher, Elizabeth;
- Martell, Sally Y.;
- Death, Alison K.;
- Williams, Paul F.;
- Lyons, J. Guy;
- Yue, Dennis K.
Publication type:
Article
Effects of glucose on matrix metalloproteinase and plasmin activities in mesangial cells: Possible role in diabetic nephropathy.
Published in:
Kidney International Supplement, 2000, n. 77, p. S-81
By:
- McLennan, Susan V.;
- Fisher, Elizabeth;
- Martell, Sally Y.;
- Death, Alison K.;
- Williams, Paul F.;
- Lyons, J. Guy;
- Yue, Dennis K.
Publication type:
Article

Found: 13