E-LIB Suche - Ergebnisse für: Kruszka, P

1

MT38 Identifying High Cost and High Mortality Genetic Disea..:

Liu, Z. ; Higashi, M. ; Wu, H....
Value in Health. 26 (2023) 12 - p. S434 , 2023

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

2

A child with multiple congenital anomalies due to partial t..:

Paththinige, C. S. ; Sirisena, N. D. ; Kariyawasam, U. G. I. U....
BMC Medical Genomics. 11 (2018) 1 - p. , 2018

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

3

Parental X chromosome inheritance and variable gene express..:

Banks, N.K. ; Kruszka, P.S. ; Cheng, C....
Fertility and Sterility. 102 (2014) 3 - p. e94 , 2014

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

4

Variable gene expression in turner syndrome patients with b..:

Banks, N.K. ; Kruszka, P.S. ; Cheng, C....
Fertility and Sterility. 102 (2014) 3 - p. e253-e254 , 2014

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

5

De Novo Variants in CNOT1 , a Central Component of the CCR4..:

Vissers, L.E.L.M ; Kalvakuri, S ; de Boer, E...
https://cris.maastrichtuniversity.nl/en/publications/46c22764-b5de-406b-9120-31be699b5c7c. , 2020

Link: https://cris.maastrichtu..

6

Turner syndrome in diverse populations:

Kruszka, P ; Addissie, YA ; Tekendo-Ngongang, C...
15524833. , 2020

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

7

PRDM15 loss of function links NOTCH and WNT/PCP signaling t..:

Mzoughi, S ; Di Tullio, F ; Low, D.H.P...
Mzoughi, S., Di Tullio, F., Low, D.H.P., Motofeanu, C.-M., Ong, S.L.M., Wollmann, H., Wun, C.M., Kruszka, P., Muenke, M., Hildebrandt, F., Dunn, N.R., Messerschmidt, D.M., Guccione, E. (2020). PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Science Advances 6 (2) : eaax9852. ScholarBank@NUS Repository. https://doi.org/10.1126/sciadv.aax9852. , 2020

Link: https://scholarbank.nus...

8

Loss of function in ROBO1 is associated with tetralogy of F..:

Kruszka, P ; Tanpaiboon, P ; Neas, K...
doi:10.1136/jmedgenet-2017-104611. , 2017

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

9

Limb body wall complex, amniotic band sequence, or new synd..:

Chung, BHY ; Martinez, AF ; Mutesa, L...
Molecular Genetics & Genomic Medicine. , 2015

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

10

A child with multiple congenital anomalies due to partial t..:

C. S. Paththinige ; N. D. Sirisena ; U. G. I. U. Kariyawasam...
http://link.springer.com/article/10.1186/s12920-018-0366-6. , 2018

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

11

The 8th International RASopathies Symposium: Expanding rese..:

Pierpont, Elizabeth I. ; Bennett, Anton M. ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

12

De novo variants implicate chromatin modification, transcri..:

Timberlake, Andrew T. ; McGee, Stephen ; Allington, Garrett...
The American Journal of Human Genetics. 110 (2023) 5 - p. 846-862 , 2023

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

13

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain. 147 (2023) 4 - p. 1553-1570 , 2023

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

14

Selective etching of p-GaN over Al0.25Ga0.75N in Cl2/Ar/O2 ..:

Taube, Andrzej ; Kamiński, Maciej ; Ekielski, Marek...
Materials Science in Semiconductor Processing. 122 (2021) - p. 105450 , 2021

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

15

Sex differences in neutrophil biology modulate response to ..:

Gupta, Sarthak ; Nakabo, Shuichiro ; Blanco, Luz P....
Proceedings of the National Academy of Sciences. 117 (2020) 28 - p. 16481-16491 , 2020

Link: https://doi.org/10.1073/..