E-LIB Suche - Ergebnisse für: McGinniss, Matthew J

1

Impact of Mutation Variant Allele Frequency on Phenotype, O..:

Sallman, David ; Komrokji, Rami ; Vaupel, Christine...
Clinical Lymphoma Myeloma and Leukemia. 15 (2015) - p. S43-S44 , 2015

Link: https://doi.org/10.1016/..

2

Identification of HRAS mutations and absence of GNAQ or GNA..:

Bender, Ryan P ; McGinniss, Matthew J ; Esmay, Paula..
Modern Pathology. 26 (2013) 10 - p. 1320-1328 , 2013

Link: https://doi.org/10.1038/..

3

Heterozygote Testing and Carrier Screening:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics,

McGinniss, Matthew J. ; Kaback, Michael M. - p. 1-10 , 2013

Link: https://doi.org/10.1016/..

4

Quality Control, Assurance, Identification, and Standards:

, In: Molecular Diagnostics,

McGinniss, Matthew J. - p. 115-120 , 2010

Link: https://doi.org/10.1016/..

5

M1086 Prediction of Inflammatory Bowel Disease (IBD) Using ..:

Barken, Derren M. ; McGinniss, Matthew J. ; Nakamura, Robert M..
Gastroenterology. 136 (2009) 5 - p. A-346-A-347 , 2009

Link: https://doi.org/10.1016/..

6

357 Serum Immune Responses to Anti-CBIR1 Flagellin (CBIR1) ..:

Pietzak, Michelle M. ; Barken, Derren M. ; Schofield, Timothy C..
Gastroenterology. 136 (2009) 5 - p. A-57 , 2009

Link: https://doi.org/10.1016/..

7

Multiple Property Tolerance Analysis for the Evaluation of ..:

Lee, Tai-Sung ; Potts, Steven J. ; McGinniss, Matthew J..
Evolutionary Bioinformatics. 2 (2006) - p. 117693430600200 , 2006

Link: https://doi.org/10.1177/..

8

Novel and recurrent rearrangements in the CFTR gene: clinic..:

Hantash, Feras M. ; Redman, Joy B. ; Starn, Kelsey...
Human Genetics. 119 (2006) 3 - p. 352-352 , 2006

Link: https://doi.org/10.1007/..

9

CFTR 5T variant has a low penetrance in females that is par..:

Sun, Weimin ; Anderson, Ben ; Redman, Joy...
Genetics in Medicine. 8 (2006) 6 - p. 339-345 , 2006

Link: https://doi.org/10.1097/..

10

Extensive Sequencing of the CFTR gene: lessons learned from..:

McGinniss, Matthew J. ; Chen, Christina ; Redman, Joy B....
Human Genetics. 118 (2005) 3-4 - p. 331-338 , 2005

Link: https://doi.org/10.1007/..

11

Technical validation of a multiplex platform to detect thir..:

Strom, Charles M. ; Janeczko, Richard A. ; Anderson, Ben...
Genetics in Medicine. 7 (2005) 9 - p. 633-639 , 2005

Link: https://doi.org/10.1097/..

12

Detection of 677CT/1298AC "double variant" chromosomes: Imp..:

Brown, Nicholas M. ; Pratt, Victoria M. ; Buller, Arlene...
Genetics in Medicine. 7 (2005) 4 - p. 278-282 , 2005

Link: https://doi.org/10.1097/..

13

Novel and recurrent rearrangements in the CFTR gene: clinic..:

Hantash, Feras M. ; Redman, Joy B. ; Starn, Kelsey...
Human Genetics. 119 (2005) 1-2 - p. 126-136 , 2005

Link: https://doi.org/10.1007/..

14

Molecular screening for diseases frequent in Ashkenazi Jews..:

Strom, Charles M. ; Crossley, Beryl ; Redman, Joy B....
Genetics in Medicine. 6 (2004) 3 - p. 145-152 , 2004

Link: https://doi.org/10.1097/..

15

Technology challenges in screening single gene disorders:

Braun, Andreas ; Roth, Richard ; McGinniss, Matthew J.
European Journal of Pediatrics. 162 (2003) 0 - p. S13-S16 , 2003

Link: https://doi.org/10.1007/..