E-LIB Suche - Ergebnisse für: Powell‐Hamilton, Nina

1

Inherited intragenic PBX1 deletion: Expanding the phenotype:

Fitzgerald, Kristi K. ; Powell‐Hamilton, Nina ; Shillingford, Amanda J...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 234-237 , 2020

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

2

A novel rasopathy caused by recurrent de novo missense muta..:

Gripp, Karen W. ; Aldinger, Kimberly A. ; Bennett, James T....
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2237-2247 , 2016

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

3

P416: The conundrum of cardiovascular imaging and genetic t..:

Powell-Hamilton, Nina ; Kois, Chelsea ; Nees, Shannon
Genetics in Medicine Open. 2 (2024) - p. 101310 , 2024

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

4

P343: Distinctive facial features, cleft palate, talipes eq..:

Wadman, Erin ; Fernandes, Erica ; Powell-Hamilton, Nina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100371 , 2023

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

5

A novel syndrome associated with prenatal fentanyl exposure:

Wadman, Erin ; Fernandes, Erica ; Muss, Candace...
Genetics in Medicine Open. 1 (2023) 1 - p. 100834 , 2023

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

6

eP216: An unexpected diagnosis of RIDDLE syndrome and possi..:

Powell-Hamilton, Nina
Genetics in Medicine. 24 (2022) 3 - p. S134-S135 , 2022

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

7

Histone H3.3 beyond cancer: Germline mutations inHistone 3 ..:

Bryant, Laura ; Li, Dong ; Cox, Samuel G....
Science Advances. 6 (2020) 49 - p. , 2020

Link: https://doi.org/10.1126/..

8

HUWE1 variants cause dominant X-linked intellectual disabil..:

Moortgat, Stéphanie ; Berland, Siren ; Aukrust, Ingvild...
European Journal of Human Genetics. 26 (2017) 1 - p. 64-74 , 2017

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

9

Phenotypic and molecular characterisation of CDK13-related ..:

Members of the Undiagnosed Diseases Network ; Bostwick, Bret L. ; McLean, Scott...
Genome Medicine. 9 (2017) 1 - p. , 2017

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

10

Maternal uniparental disomy of chromosome 20: a novel impri..:

Mulchandani, Surabhi ; Bhoj, Elizabeth J. ; Luo, Minjie...
Genetics in Medicine. 18 (2016) 4 - p. 309-315 , 2016

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

11

Clinical, Pathologic, and Mutational Spectrum of Dystroglyc..:

Meilleur, Katherine G. ; Zukosky, Kristen ; Medne, Livija...
Journal of Neuropathology & Experimental Neurology. 73 (2014) 5 - p. 425-441 , 2014

Link: https://doi.org/10.1097/..

12

MAPRE2-related disorder: expanding the neurodevelopmental p..:

Powell-Hamilton, Nina N.
Molecular Genetics and Metabolism. 132 (2021) - p. S192 , 2021

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

13

Characterization of SETD1A haploinsufficiency in humans and..:

Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas...
Molecular Psychiatry. 26 (2020) 6 - p. 2013-2024 , 2020

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

14

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E ; Campbell, Ian M ; Harr, Margaret H...
qt0xp4224d. , 2021

Link: https://escholarship.org..

15

A novel syndrome associated with prenatal fentanyl exposure:

Erin Wadman ; Erica Fernandes ; Candace Muss...
http://www.sciencedirect.com/science/article/pii/S2949774423008439. , 2023

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