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Mathew, Mariam
247
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Online (247)
Mediatypes
Articles (Online) (101)
Bookchapter (Online) (9)
OpenAccess-fulltext (137)
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1
Exome sequencing in the pediatric neuromuscular clinic lead..:
Meyer, Alayne P.
;
Ma, Jianing
;
Brock, Guy
...
Muscle & Nerve. 68 (2023) 6 - p. 833-840 , 2023
Link:
https://doi.org/10.1002/..
?
2
P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guide..:
Goar, Wesley
;
Kuzma, Kori
;
Stahl, Kathryn
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100719 , 2023
Link:
https://doi.org/10.1016/..
?
3
O13: Clinical validation of copy number alteration using pa..:
Schieffer, Kathleen
;
Gordon, David
;
Wheeler, Gregory
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100057 , 2023
Link:
https://doi.org/10.1016/..
?
4
58. Implementing the ClinGen/CGC/VICC oncogenicity guidelin..:
Goar, Wesley
;
Kuzma, Kori
;
Stahl, Kathryn
...
Cancer Genetics. 278-279 (2023) - p. 18 , 2023
Link:
https://doi.org/10.1016/..
?
5
34. Comprehensive genomic characterization of infantile can..:
Mathew, Mariam
;
Potter, Samara
;
Bucknor, Brianna
...
Cancer Genetics. 278-279 (2023) - p. 11 , 2023
Link:
https://doi.org/10.1016/..
?
6
P070: Discerning the meaning of cancer predisposition varia..:
Macke, Erica
;
Schieffer, Kathleen
;
Mathew, Mariam
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100089 , 2023
Link:
https://doi.org/10.1016/..
?
7
23. Paired exome analysis in Mosaic Disease yields expanded..:
Cottrell, Catherine
;
Setty, Bhuvana
;
Lillis, Anna
...
Cancer Genetics. 268-269 (2022) - p. 8-9 , 2022
Link:
https://doi.org/10.1016/..
?
8
117. Clinical lessons learned from Translational Molecular ..:
Schieffer, Kathleen
;
Mathew, Mariam
;
Lee, Kristy
...
Cancer Genetics. 268-269 (2022) - p. 37-38 , 2022
Link:
https://doi.org/10.1016/..
?
9
Pacific Biosciences Fusion and Long Isoform Pipeline for Ca..:
Miller, Anthony R.
;
Wijeratne, Saranga
;
McGrath, Sean D.
...
The Journal of Molecular Diagnostics. 24 (2022) 12 - p. 1292-1306 , 2022
Link:
https://doi.org/10.1016/..
?
10
HGG-24. NTRK-rearranged infantile gliomas of suprasellar/ o..:
Lazow, Margot A
;
Mathew, Mariam
;
Salloum, Ralph
...
Neuro-Oncology. 24 (2022) Supplement_1 - p. i65-i66 , 2022
Link:
https://doi.org/10.1093/..
?
11
Evaluating the mutational spectrum of SIN3A alterations: a ..:
Hickey, Scott
;
Bartholomew, Dennis
;
Truxal, Kristen
...
Molecular Genetics and Metabolism. 132 (2021) - p. S271-S272 , 2021
Link:
https://doi.org/10.1016/..
?
12
Pathogenic variants inSMARCA5, a chromatin remodeler, cause..:
Li, Dong
;
Wang, Qin
;
Gong, Naihua N.
...
Science Advances. 7 (2021) 20 - p. , 2021
Link:
https://doi.org/10.1126/..
?
13
35. Mosaicism as incidental finding in the pediatric next g..:
Melas, Marilena
;
Mathew, Mariam
;
Jayaraman, Vijayakumar
...
Cancer Genetics. 244 (2020) - p. 13-14 , 2020
Link:
https://doi.org/10.1016/..
?
14
Ocular manifestations in a case of Wernicke's encephalopath..:
Mathew, NamithaRachel
;
Menon, SudhaG
;
Mathew, Mariam
Oman Journal of Ophthalmology. 11 (2018) 1 - p. 85 , 2018
Link:
https://doi.org/10.4103/..
?
15
Idiopathic intracranial hypertension presenting as postpart..:
Mathew, Mariam
;
Salahuddin, Ayesha
;
Mathew, Namitha R.
.
Neurosciences. 21 (2016) 1 - p. 52-55 , 2016
Link:
https://doi.org/10.17712..
1-15