E-LIB Suche - Ergebnisse für: Erich Roessler

1

Cooperative Interactions Between the Interleukin 2 Receptor..:

Erich Roessler ; Angus Grant ; Grace Ju...
Proceedings of the National Academy of Sciences of the United States of America. 91 (1994) 8 - p. 3344-3347 , 1994

Link: https://www.jstor.org/st..

2

Low-level parental mosaicism affects the recurrence risk of..:

Hu, Ping ; Martinez, Ariel F. ; Kruszka, Paul...
Genetics in Medicine. 21 (2019) 4 - p. 1015-1020 , 2019

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

3

Erratum: In-depth investigations of adolescents and adults ..:

Weiss, Karin ; Kruszka, Paul ; Guillen Sacoto, Maria J....
Genetics in Medicine. 20 (2018) 1 - p. 164 , 2018

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

4

Loss-of-function mutations in FGF8 can be independent risk ..:

Hong, Sungkook ; Hu, Ping ; Roessler, Erich..
Human Molecular Genetics. 27 (2018) 11 - p. 1989-1998 , 2018

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

5

Clinical and Demographic Evaluation of a Holoprosencephaly ..:

Abe, Yu ; Kruszka, Paul ; Martinez, Ariel F....
The Anatomical Record. 301 (2018) 6 - p. 973-986 , 2018

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

6

Holoprosencephaly in the genomics era:

Roessler, Erich ; Hu, Ping ; Muenke, Maximilian
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 2 - p. 165-174 , 2018

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

7

In-depth investigations of adolescents and adults with holo..:

Weiss, Karin ; Kruszka, Paul ; Guillen Sacoto, Maria J....
Genetics in Medicine. 20 (2018) 1 - p. 14-23 , 2018

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

8

SIX3 deletions and incomplete penetrance in families affect..:

Stokes, Bethany ; Berger, Seth I. ; Hall, Beth A....
Congenital Anomalies. 58 (2017) 1 - p. 29-32 , 2017

Link: https://doi.org/10.1111/..

9

Dominant-negative kinase domain mutations inFGFR1can explai..:

Hong, Sungkook ; Hu, Ping ; Marino, Juliana...
Human Molecular Genetics. 25 (2016) 10 - p. 1912-1922 , 2016

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

10

Unique Alterations of an Ultraconserved Non-Coding Element ..:

Roessler, Erich ; Hu, Ping ; Hong, Sung-Kook...
PLoS ONE. 7 (2012) 7 - p. e39026 , 2012

Link: https://doi.org/10.1371/..

11

GWAS reveals new recessive loci associated with non-syndrom..:

Camargo, Mauricio ; Rivera, Dora ; Moreno, Lina...
European Journal of Medical Genetics. 55 (2012) 10 - p. 510-514 , 2012

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

12

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 ..:

Roessler, Erich ; Vélez, Jorge I. ; Zhou, Nan.
Molecular Genetics and Metabolism. 105 (2012) 4 - p. 658-664 , 2012

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

13

Patients within the broad holoprosencephaly spectrum have d..:

Pineda‐Alvarez, Daniel E. ; Solomon, Benjamin D. ; Roessler, Erich...
American Journal of Medical Genetics Part A. 158A (2012) 5 - p. 1244-1245 , 2012

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

14

Molecular analysis of the Noggin (NOG) gene in holoprosence..:

Srivastava, Kshitij ; Hu, Ping ; Solomon, Benjamin D....
Molecular Genetics and Metabolism. 106 (2012) 2 - p. 241-243 , 2012

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

15

Holoprosencephaly in a family segregating novel variants in..:

Wannasilp, Nilrat ; Solomon, Benjamin D. ; Warren-Mora, Nicole...
American Journal of Medical Genetics Part A. 155 (2011) 4 - p. 860-864 , 2011

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