E-LIB Suche - Ergebnisse für: Genevieve Pont-Kingdon

1

Impact of implementing customized ACMG/AMP variant interpre..:

Mills, Maria ; Coupal, Elena ; Cone, Kelsey...
Molecular Genetics and Metabolism. 132 (2021) - p. S3 , 2021

2

DNA variant databases improve test accuracy and phenotype p..:

The International Alport Mutation Consortium ; Savige, Judy ; Ars, Elisabet...
Pediatric Nephrology. 29 (2013) 6 - p. 971-977 , 2013

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

3

The Alport syndrome COL4A5 variant database:

Crockett, David K. ; Pont-Kingdon, Genevieve ; Gedge, Frederick...
Human Mutation. 31 (2010) 8 - p. E1652-E1657 , 2010

Link: https://doi.org/10.1002/..

4

Molecular testing for adult type Alport syndrome:

Pont-Kingdon, Genevieve ; Sumner, Kelli ; Gedge, Friederike...
BMC Nephrology. 10 (2009) 1 - p. , 2009

Link: https://doi.org/10.1186/..

5

Design and Application of Noncontinuously Binding Probes Us..:

Schütz, Ekkehard ; Lyon, Elaine ; Millson, Alison...
Clinical Chemistry. 54 (2008) 6 - p. 990-999 , 2008

Link: https://doi.org/10.1373/..

6

Multiplex Genotyping by Melting Analysis of Loci-Spanning P..:

Pont-Kingdon, Genevieve ; Chou, Lan-Szu ; Damjanovich, Kristy...
BioTechniques. 42 (2007) 2 - p. 193-197 , 2007

Link: https://doi.org/10.2144/..

7

Response to the letter "Simultaneous Molecular Haplotyping ..:

Lyon, Elaine ; Pont-Kingdon, Genevieve ; Millson, Alison
Clinical Chemistry. 52 (2006) 8 - p. 1622-1622 , 2006

Link: https://doi.org/10.1373/..

8

Characterization of Publicly Available Lymphoblastoid Cell ..:

Stenzel, Timothy T ; Pont-Kingdon, Genevieve ; Levin, Barbara C...
Clinical Chemistry. 51 (2005) 11 - p. 2156-2159 , 2005

Link: https://doi.org/10.1373/..

9

Direct Molecular Haplotyping of the IVS-8 Poly(TG) and Poly..:

Lyon, Elaine ; Page, Sam ; Pont-Kingdon, Genevieve.
Clinical Chemistry. 51 (2005) 9 - p. 1619-1623 , 2005

Link: https://doi.org/10.1373/..

10

Rapid Detection of Aneuploidy (Trisomy 21) by Allele Quanti..:

Lyon, Elaine ; Pont-Kingdon, Genevieve
Clinical Chemistry. 49 (2003) 7 - p. 1087-1094 , 2003

Link: https://doi.org/10.1373/..

11

Mitochondrial DNA of Hydra attenuata (Cnidaria): A Sequence..:

Pont-Kingdon, Genevieve ; Vassort, Cecile G. ; Warrior, Rahul...
Journal of Molecular Evolution. 51 (2000) 4 - p. 404-415 , 2000

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

12

Definition of the Human N-myc Promoter Region during Develo..:

Tai, Kai-Fang ; Rogers, Scott W ; Pont-Kingdon, Genevieve.
Pediatric Research. 46 (1999) 3 - p. 255-262 , 1999

Link: https://doi.org/10.1203/..

13

A coral mitochondrial mutS gene:

Pont-Kingdon, Geneviève A. ; Okada, Norichika A. ; Macfarlane, Jane L....
Nature. 375 (1995) 6527 - p. 109-111 , 1995

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

14

Multiplex genotyping by melting analysis of loci-spanning p..:

Genevieve Pont-Kingdon ; Lan-Szu Chou ; Kristy Damjanovich...
https://www.future-science.com/doi/10.2144/000112330. , 2007

Link: https://doi.org/10.2144/..

15

Molecular testing for adult type Alport syndrome:

Miller Chris ; Gedge Friederike ; Sumner Kelli...
http://www.biomedcentral.com/1471-2369/10/38. , 2009

Link: https://doi.org/10.1186/..