E-LIB Suche - Ergebnisse für: Pritchard, Amanda Barone

1

Uncoupling histone modification crosstalk by engineering ly..:

Lee, Kwangwoon ; Barone, Marco ; Waterbury, Amanda L....
Nature Chemical Biology. , 2024

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

2

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget...
Genes. 14 (2023) 3 - p. 726 , 2023

Link: https://doi.org/10.3390/..

3

ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTY..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107489 , 2023

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

4

An atypically mild case of ethylmalonic encephalopathy with..:

Kashima, Daniel T. ; Sloan‐Heggen, Christina M. ; Gottlieb‐Smith, Rachel J..
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1614-1618 , 2023

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

5

CEBP-β and PLK1 as Potential Mediators of the Breast Cancer..:

Accattatis, Felice Maria ; Caruso, Amanda ; Carleo, Alfonso...
Nutrients. 15 (2023) 13 - p. 2839 , 2023

Link: https://doi.org/10.3390/..

6

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Descript..:

Albokhari, Daniah ; Pritchard, Amanda Barone ; Beil, Adelyn...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1261-1272 , 2023

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

7

P036: Atypically mild ethylmalonic encephalopathy expands p..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Genetics in Medicine Open. 1 (2023) 1 - p. 100046 , 2023

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

8

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Bela Parekh ; Adelyn Beil ; Bridget Blevins...
https://www.mdpi.com/2073-4425/14/3/726. , 2023

Link: https://doi.org/10.3390/..

9

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048684/. , 2023

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

10

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Bela Parekh ; Adelyn Beil ; Bridget Blevins...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..

11

P036: Atypically mild ethylmalonic encephalopathy expands p..:

Christina Sloan-Heggen ; Daniel Kashima ; Rachel Gottlieb-Smith.
http://www.sciencedirect.com/science/article/pii/S2949774423000468. , 2023

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

12

Proteomic Profiling of Extracellular Vesicles Released by L..:

Gelsomino, Luca ; Barone, Ines ; Caruso, Amanda...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 12941 , 2022

Link: https://doi.org/10.3390/..

13

eP249: Practical implementation of inpatient rapid comprehe..:

Sloan-Heggen, Christina ; Pritchard, Amanda Barone ; Barks, John...
Genetics in Medicine. 24 (2022) 3 - p. S158 , 2022

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

14

Interstitial deletion 4p15.32p16.1 and complex chromoplexy ..:

Li, Dong ; Strong, Alanna ; Hou, Cuiping...
Molecular Cytogenetics. 15 (2022) 1 - p. , 2022

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

15

Inborn error of metabolism patients after liver transplanta..:

Pritchard, Amanda Barone ; Izumi, Kosuke ; Payan‐Walters, Irma...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1443-1447 , 2022

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