E-LIB Suche - Ergebnisse für: Ahrens-Nicklas, Rebecca

1

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acido..:

Ganetzky, Rebecca D ; Bloom, Kaitlyn ; Ahrens-Nicklas, Rebecca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110442/. , 2016

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

2

Phenotypic predictors and final diagnoses in patients refer..:

Bhoj, Elizabeth J ; Yu, Zhenming ; Guan, Qiaoning...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095193/. , 2016

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

3

Partial suppression of BCAA catabolism as a potential thera..:

Ohl, Laura ; Kuhs, Amanda ; Pluck, Ryan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592755/. , 2023

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

4

A base editing strategy using mRNA-LNPs for in vivo correct..:

Brooks, Dominique L ; Whittaker, Madelynn N ; Said, Hooda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10800763/. , 2023

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

5

Characterizing asparagine synthetase deficiency variants in..:

Staklinski, Stephen J ; Chang, Mario C ; Ahrens-Nicklas, Rebecca C...
https://repository.cshl.edu/id/eprint/41292/1/Characterizing%20asparagine%20synthetase%20deficiency%20variants%20in%20lymphoblastoid%20cell%20lines.pdf. , 2023

Link: https://repository.cshl...

6

Rapid and definitive treatment of phenylketonuria in varian..:

Brooks, Dominique L ; Carrasco, Manuel J ; Qu, Ping...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257655/. , 2023

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

7

Efficient in vivo prime editing corrects the most frequent ..:

Brooks, Dominique L ; Whittaker, Madelynn N ; Qu, Ping...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10716342/. , 2023

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

8

Consolidation of the clinical and genetic definition of a S..:

Angelozzi, Marco ; Karvande, Anirudha ; Molin, Arnaud N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433470/. , 2022

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

9

Newborn Screening for X-Linked Adrenoleukodystrophy: Review..:

Priestley, Jessica R. C ; Adang, Laura A ; Drewes Williams, Sarah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036281/. , 2022

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

10

Neuronal genetic rescue normalizes brain network dynamics i..:

Ahrens-Nicklas, Rebecca C ; Tecedor, Luis ; Hall, Arron F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263320/. , 2022

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

11

Heal thyself: The promise of autologous hematopoietic stem ..:

Ahrens-Nicklas, Rebecca C
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077364/. , 2022

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

12

Genetic Variant Burden and Adverse Outcomes in Pediatric Ca..:

Burstein, Danielle S ; Gaynor, J. William ; Griffis, Heather...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256333/. , 2020

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

13

The Importance of Succinylacetone: Tyrosinemia Type I Prese..:

Priestley, Jessica R. C ; Alharbi, Hana ; Callahan, Katharine Press...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422996/. , 2020

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

14

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disea..:

Xu, Jing ; Jakher, Youseff ; Ahrens-Nicklas, Rebecca C
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590055/. , 2020

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

15

Newborn Screening for Pompe Disease: Pennsylvania Experienc:

Ficicioglu, Can ; Ahrens-Nicklas, Rebecca C ; Barch, Joshua...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712483/. , 2020

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