E-LIB Suche - Ergebnisse für: Sumner, Kelli L

1

An investigation of PIK3CA mutations in isolated macrodacty..:

Wu, Jingheng ; Tian, Wei ; Tian, Guanglei...
Journal of Hand Surgery (European Volume). 43 (2018) 7 - p. 756-760 , 2018

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

2

Pulmonary veno-occlusive disease: Two children with gradual..:

Day, Ronald W. ; Clement, Parker W. ; Hersh, Aimee O....
Respiratory Medicine Case Reports. 20 (2017) - p. 82-86 , 2017

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

3

Infantile pulmonary capillary haemangiomatosis: a lethal fo..:

McGovern, Eiméar ; McNally, Paul ; O'Sullivan, Maureen...
Cardiology in the Young. 26 (2015) 4 - p. 663-668 , 2015

Link: https://doi.org/10.1017/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Pulmonary veno-occlusive disease: Two children with gradual..:

Day, Ronald W ; Clement, Parker W ; Hersh, Aimee O...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219617/. , 2016

Link: http://www.ncbi.nlm.nih...

9

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis:

Best, D. Hunter ; Sumner, Kelli L ; Austin, Eric D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

10

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/..

11

Lack of association between beta 2-adrenergic receptor poly..:

Pont-Kingdon, Genevieve ; Bohnsack, John ; Sumner, Kelli...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838190. , 2009

Link: http://www.ncbi.nlm.nih...

12

Molecular testing for adult type Alport syndrome:

Pont-Kingdon, Genevieve ; Sumner, Kelli ; Gedge, Friederike...
http://www.biomedcentral.com/1471-2369/10/38. , 2009

Link: http://www.biomedcentral..

13

Pulmonary veno-occlusive disease: Two children with gradual..:

Ronald W. Day ; Parker W. Clement ; Aimee O. Hersh...
http://www.sciencedirect.com/science/article/pii/S2213007116301861. , 2017

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

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/..