E-LIB Suche - Ergebnisse für: Shaw, Adam C.

1

Identification of people with Lynch syndrome from those pre..:

McRonald, Fiona E. ; Pethick, Joanna ; Santaniello, Francesco...
European Journal of Human Genetics. 32 (2024) 5 - p. 529-538 , 2024

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

2

The English National Lynch Syndrome transformation project:..:

Monahan, Kevin J ; Ryan, Neil ; Monje-Garcia, Laura...
BMJ Oncology. 2 (2023) 1 - p. e000124 , 2023

Link: https://doi.org/10.1136/..

3

Management and Screening in Neurofibromatosis Types 1 and 2:

Shaw, Adam C.
Current Genetic Medicine Reports. 7 (2019) 2 - p. 92-101 , 2019

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

4

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics. 58 (2015) 5 - p. 279-292 , 2015

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

5

Deletions in the 3′ Part of theNFIXGene Including a Recurre..:

Schanze, Denny ; Neubauer, Dorothée ; Cormier-Daire, Valerie...
Human Mutation. 35 (2014) 9 - p. 1092-1100 , 2014

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

6

The face in congenital melanocytic nevus syndrome:

Kinsler, Veronica ; Shaw, Adam C. ; Merks, Johannes H..
American Journal of Medical Genetics Part A. 158A (2012) 5 - p. 1014-1019 , 2012

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

7

Phenotype and natural history in Marshall–Smith syndrome:

Shaw, Adam C. ; van Balkom, Inge D.C. ; Bauer, Mislen...
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2714-2726 , 2010

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

8

Interpreting humanity's genes:

Shaw, Adam C. ; Hennekam, Raoul C.M.
European Journal of Medical Genetics. 52 (2009) 6 - p. 379-380 , 2009

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

9

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Heal..:

Smedley, Damian ; Smith, Katherine R ; Martin, Antonio Rueda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613219/. , 2021

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

10

Improved imputation of low-frequency and rare variants usin..:

Huang, J. (Jie) ; Howie, B. (Bryan) ; McCarthy, S. (Shane)...
http://repub.eur.nl/pub/83508. , 2015

Link: http://repub.eur.nl/pub/..

11

Distinct Effects of Allelic NFIX Mutations on Nonsense-Medi..:

Malan, Valérie ; Rajan, Diana ; Thomas, Sophie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917711. , 2010

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

12

Alzheimer Disease Pathology-Associated Polymorphism in a Co..:

Katsumata, Yuriko ; Fardo, David W ; Bachstetter, Adam D...
Journal of Neuropathology & Experimental Neurology. 79 (2019) 1 - p. 3-21 , 2019

Link: https://doi.org/10.1093/..

13

Descending brain neurons in larval lamprey: Spinal projecti..:

Shaw, Albert C. ; Jackson, Adam W. ; Holmes, Tamra...
Experimental Neurology. 224 (2010) 2 - p. 527-541 , 2010

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

14

Longitudinal evaluation of quality of life in 288 patients ..:

Ferner, Rosalie E. ; Shaw, Adam ; Evans, D. Gareth...
Journal of Neurology. 261 (2014) 5 - p. 963-969 , 2014

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

15

3D analysis of facial morphology:

Hammond, Peter ; Hutton, Tim J. ; Allanson, Judith E....
American Journal of Medical Genetics Part A. 126A (2004) 4 - p. 339-348 , 2004

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