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Author/Creator Tischkowitz, Marc D

1. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. Issue 5 (17th February 2015)

Authors:
Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing-Jian; Goldgar, David E; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B; Wimmer, ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
348
Record Type:
Journal Article
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2. Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again. Issue 1 (6th August 2013)

Authors:
Witkowski, Leora; Lalonde, Emilie; Zhang, Jian; Albrecht, Steffen; Hamel, Nancy; Cavallone, Luca; May, Sandra Thompson; Nicholson, James C; Coleman, Nicholas; Murray, Matthew J; Tauber, Peter F; Huntsman, David G; Schönberger, Stefan; Yandell, David; Hasselblatt, Martin; Tischkowitz, Marc D; Maje...
Journal:
Journal of pathology
Issue:
Volume 231:Issue 1(2013)
Page Start:
35
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?. Issue 7 (26th February 2018)

Authors:
Evans, D Gareth; Woodward, Emma; Harkness, Elaine F; Howell, Anthony; Plaskocinska, Inga; Maher, Eamonn R; Tischkowitz, Marc D; Lalloo, Fiona
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 7(2018)
Page Start:
442
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗