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Author/Creator Martin, Beth

5. BRCA Testing by Single-Molecule Molecular Inversion Probes. (6th January 2020)

Authors:
Neveling, Kornelia; Mensenkamp, Arjen R; Derks, Ronny; Kwint, Michael; Ouchene, Hicham; Steehouwer, Marloes; van Lier, Bart; Bosgoed, Ermanno; Rikken, Alwin; Tychon, Marloes; Zafeiropoulou, Dimitra; Castelein, Steven; Hehir-Kwa, Jayne; Tjwan Thung, Djie; Hofste, Tom; Lelieveld, Stefan H; Bertens,...
Journal:
Clinical chemistry
Issue:
Volume 63:Number 2(2017)
Page Start:
503
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015)

Authors:
Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri...
Journal:
Lancet neurology
Issue:
Volume 14:Issue 12(2015:Dec.)
Page Start:
1182
Record Type:
Journal Article
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9. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Issue 9 (23rd June 2019)

Authors:
Shigaki, Dustin; Adato, Orit; Adhikari, Aashish N.; Dong, Shengcheng; Hawkins‐Hooker, Alex; Inoue, Fumitaka; Juven‐Gershon, Tamar; Kenlay, Henry; Martin, Beth; Patra, Ayoti; Penzar, Dmitry D.; Schubach, Max; Xiong, Chenling; Yan, Zhongxia; Boyle, Alan P.; Kreimer, Anat; Kulakovskiy, Ivan V.; Reid...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1280
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Issue 4 (26th February 2015)

Authors:
D'Gama, Alissa M.; Geng, Ying; Couto, Javier A.; Martin, Beth; Boyle, Evan A.; LaCoursiere, Christopher M.; Hossain, Amer; Hatem, Nicole E.; Barry, Brenda J.; Kwiatkowski, David J.; Vinters, Harry V.; Barkovich, A. James; Shendure, Jay; Mathern, Gary W.; Walsh, Christopher A.; Poduri, Annapurna
Journal:
Annals of neurology
Issue:
Volume 77:Issue 4(2015:Apr.)
Page Start:
720
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗