Marsha Speevak: search on Z-Library

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1

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

Perera, Sheron, Ramyar, Lily, Mitri, Angie, Pollett, Aaron, Gallinger, Steven, Speevak, Marsha D, Aronson, Melyssa, Bapat, Bharati

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 269 KB

english, 2010

2

CCMG practice guideline: laboratory guidelines for next-generation sequencing

Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 286 KB

2019

3

Mosaic r(13) in an infant with aprosencephaly

Claire L. Goldsmith, George F. Tawagi, Blair F. Carpenter, Marsha D. Speevak, Alasdair G. W. Hunter

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 350 KB

english, 1993

4

Molecular characterization of an inherited ring (19) demonstrating ring opening

Marsha D. Speevak, Carolin Smart, Lianne Unwin, Morag Bell, Sandra A. Farrell

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

5

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

Marsha D. Speevak, Sandra A. Farrell

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 288 KB

english, 2011

6

The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis

Marsha D. Speevak, Jean McGowan-Jordan, Kathy Chun

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

7

Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach

Evica Rajcan-Separovic, Hung-Shu Wang, Marsha D. Speevak, Lynn Janes, Robert G. Korneluk, Kyo Wakasa, Joh-E. Ikeda

Journal:

Year:

1995

Language:

english

File:

PDF, 1.98 MB

english, 1995

8

Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon

Speevak, Marsha D, Young, Sean S, Feilotter, Harriet, Ainsworth, Peter

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

9

Stable Transfer of Zebrafish Chromosome Segments into Mouse Cells

Marc Ekker, Marsha D. Speevak, C.Cristofre Martin, Lucille Joly, Genny Giroux, Mario Chevrette

Journal:

Year:

1996

Language:

english

File:

PDF, 257 KB

english, 1996

10

Mosaic tetrasomy 21 in a liveborn male infant

Alasdair G. W. Hunter, Brian Clifford, Marsha Speevak, S. Brock MacMurray

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 569 KB

english, 1982

11

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

Fan, Yao-Shan, Zhang, Yang, Speevak, Marsha, Farrell, Sandra, Jung, Jack H, Siu, Victoria M

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 785 KB

english, 2001

12

Charcot–Marie–Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication

Speevak, Marsha D., Farrell, Sandra A.

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 506 KB

english, 2013

13

Identification of chromosomes implicated in suppression of apoptosis in somatic cell hybrids

Speevak, Marsha D., Chevrette, Mario

Journal:

Biochemistry and Cell Biology

Year:

1994

Language:

english

File:

PDF, 1.17 MB

english, 1994

14

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bik

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

15

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Lebo, Matthew S, Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D, Waye, John S, McCready, Elizabeth, Parboosingh, Jillian S, Lamont, Ryan E, Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 845 KB

english, 2017

16

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

Buchanan, Janet A, Chitayat, David, Kolomietz, Elena, Lee, Hin C, Scherer, Stephen W, Speevak, Marsha D, Sroka, Hana, Stavropoulos, Dimitri J

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 325 KB

english, 2015

17

MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

Lowther, Chelsea, Speevak, Marsha, Armour, Christine, Goh, Elaine, Graham, Gail, Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata JM, Schultz, Lee-Anne, Morra, Antonella, Nicolson, Robert, Rajguru, Ma

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 59 KB

english, 2015

18

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Waserman, Jack, Boyd, Kerry, Noor, Abdul, Speevak, Marsha, Stavropoulos, Dimitri J., Wei, John, Lionel, Anath C., Marshall, Christian R., Scherer,

Journal:

Genome Medicine

Year:

2017

Language:

english

File:

PDF, 598 KB

english, 2017

19

NullCanada: A novel Î±1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn

Chen, Sharon, DeMarco, Mari L., Estey, Mathew P., Kyle, Barry, Parker, Michelle L., Agbor, Terence A., Kawada, Patricia, Speevak, Marsha, Nelson, Tanya N., Mattman, Andre

Journal:

Clinical Biochemistry

Year:

2020

Language:

english

File:

PDF, 2.96 MB

english, 2020