نتائج البحث - "Kemppainen, Jon"

1

Academic Journal

P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software

المؤلفون: Killinger, Bryan, Edwards, Cody, Fraher, Christopher, Kemppainen, Jon, Roberts, Monica, Markulin, Theodore, Turner, Jonathan, Greenlee, Brennan, Baker, Julliette, Parker, Connor, Haynes, Brian, Hall, Bradley

المصدر: Genetics in Medicine Open ; volume 2, page 101526 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101526
https://api.elsevier.com/content/article/PII:S2949774424006721?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424006721?httpAccept=text/plain

View record in BASE

2

Academic Journal

P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow

المؤلفون: Edwards, Cody, Martin, Bradley, Roberts, Monica, Kemppainen, Jon, Routsong, Ryan, Killinger, Bryan, Lara, Adrian, Fraher, Christopher, Latham, Gary, Hall, Bradley

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100502 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100502
https://api.elsevier.com/content/article/PII:S2949774423005022?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423005022?httpAccept=text/plain

View record in BASE

3

Academic Journal

eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow

المؤلفون: Hernandez, James, Hall, Bradley, Kemppainen, Jon, Thibert, Julie, Edwards, Cody, Chen, Liangjing, Routsong, Ryan, Fraher, Chris, Markulin, Theodore, Church, Melissa, Turner, Jonathan, Filipovic-Sadic, Stela, Wisotsky, Jacob, Janovsky, Justin, Latham, Gary, Haynes, Brian, Statt, Sarah

المصدر: Genetics in Medicine ; volume 24, issue 3, page S227 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.396
https://api.elsevier.com/content/article/PII:S1098360022004130?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022004130?httpAccept=text/plain

View record in BASE

4

Academic Journal

Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System

المؤلفون: Lee, Stacey, Taylor, Jennifer L., Redmond, Charles, Hadd, Andrew G., Kemppainen, Jon A., Haynes, Brian C., Shone, Scott, Bailey, Donald B., Latham, Gary J.

المساهمون: National Center for Advancing Translational Sciences

المصدر: The Journal of Molecular Diagnostics ; volume 22, issue 3, page 346-354 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2019.11.002
https://api.elsevier.com/content/article/PII:S1525157819304520?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157819304520?httpAccept=text/plain

View record in BASE

5

Academic Journal

Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay

المؤلفون: Bram, Eran, Javanmardi, Kamyab, Nicholson, Kimberly, Culp, Kristen, Thibert, Julie R., Kemppainen, Jon, Le, Vivian, Schlageter, Annette, Hadd, Andrew, Latham, Gary J.

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; volume 20, issue 1-2, page 107-114 ; ISSN 2167-8421 2167-9223

الاتاحة: http://dx.doi.org/10.1080/21678421.2018.1522353
http://www.tandfonline.com/doi/pdf/10.1080/21678421.2018.1522353
https://www.tandfonline.com/doi/pdf/10.1080/21678421.2018.1522353

View record in BASE

6

Academic Journal

A combination of long-range PCR and long-read sequencing resolves common, high-risk dark and camouflaged carrier screening genes

المؤلفون: Statt, Sarah, Thibert, Julie, Kemppainen, Jon, Edwards, Cody, Chen, Liangjing, Markulin, Theodore, Wisotsky, Jacob, Haynes, Brian, Heiner, Cheryl, Harting, John, Latham, Gary

المصدر: Molecular Genetics and Metabolism ; volume 132, page S238-S239 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00452-2
https://api.elsevier.com/content/article/PII:S1096719221004522?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221004522?httpAccept=text/plain

View record in BASE

7

Academic Journal

Functional DNA quantification guides accurate next-generation sequencing mutation detection in formalin-fixed, paraffin-embedded tumor biopsies

المؤلفون: Sah, Sachin, Chen, Liangjing, Houghton, Jeffrey, Kemppainen, Jon, Marko, Adam C, Zeigler, Robert, Latham, Gary J

المصدر: Genome Medicine ; volume 5, issue 8, page 77 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/gm481

View record in BASE

8

Patent

COMPOSITIONS AND METHODS OF USING A SYNTHETIC DNASE I

View record in USPTO Patent Applications

9

Patent

Biological sample disruption techniques

View record in USPTO Patent Grants

10

Patent

NUCLEIC ACID QUANTITATION METHODS

View record in USPTO Patent Applications

11

Patent

Biological Sample Disruption Techniques

View record in USPTO Patent Applications

12

Patent

METHOD FOR RAPID AMPLIFICATION OF DNA

View record in USPTO Patent Applications

13

Patent

Compositions and Methods for the Detection of Small RNA

View record in USPTO Patent Applications

14

Patent

Method for rapid amplification of DNA

View record in USPTO Patent Applications

15

Patent

Compositions and methods of using a synthetic DNase I

View record in USPTO Patent Applications

16

Patent

Modified surfaces as solid supports for nucleic acid purification

View record in USPTO Patent Applications

17

Patent

Method for relative quantification of attached nucleic acids

View record in USPTO Patent Applications

18

Academic Journal

Response-Surface Modeling of the Effect of 5{alpha}-Dihydrotestosterone and Androgen Receptor Levels on the Response to the Androgen Antagonist Vinclozolin

المؤلفون: Euling, Susan Y., Gennings, Chris, Wilson, Elizabeth M., Kemppainen, Jon A., Kelce, William R., Kimmel, Carole A.

مصطلحات موضوعية: ENDOCRINE TOXICOLOGY

وصف الملف: text/html

Relation: http://toxsci.oxfordjournals.org/cgi/content/short/69/2/332; http://dx.doi.org/10.1093/toxsci/69.2.332

الاتاحة: http://toxsci.oxfordjournals.org/cgi/content/short/69/2/332
https://doi.org/10.1093/toxsci/69.2.332

View record in BASE

19

Academic Journal

FXXLF and WXXLF Sequences Mediate the NH2-terminal Interaction with the Ligand Binding Domain of the Androgen Receptor

المؤلفون: He, Bin, Kemppainen, Jon A., Wilson, Elizabeth M.

المصدر: Journal of Biological Chemistry ; volume 275, issue 30, page 22986-22994 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1074/jbc.m002807200
https://api.elsevier.com/content/article/PII:S0021925819661545?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925819661545?httpAccept=text/plain
https://syndication.highwire.org/content/doi/10.1074/jbc.M002807200

View record in BASE

20

Academic Journal

Activation Function 2 in the Human Androgen Receptor Ligand Binding Domain Mediates Interdomain Communication with the NH2-terminal Domain

المؤلفون: He, Bin, Kemppainen, Jon A., Voegel, Johannes J., Gronemeyer, Hinrich, Wilson, Elizabeth M.

المصدر: Journal of Biological Chemistry ; volume 274, issue 52, page 37219-37225 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1074/jbc.274.52.37219
https://api.elsevier.com/content/article/PII:S0021925819530812?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925819530812?httpAccept=text/plain
https://syndication.highwire.org/content/doi/10.1074/jbc.274.52.37219

View record in BASE

تنقيح النتائج