E-LIB Suche - Ergebnisse für: Pappas, Kara B.

1

Newborn Screening:

Pappas, Kara B.
Pediatric Clinics of North America. 70 (2023) 5 - p. 1013-1027 , 2023

2

Transcobalamin receptor deficiency in seven asymptomatic pa..:

Pappas, Kara B. ; Younan, Marissa ; Conway, Robert
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1102-1108 , 2022

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

3

A cautionary tale of pyridoxine toxicity in cystathionine b..:

Ames, Elizabeth G. ; Scott, Anthony J. ; Pappas, Kara B....
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2704-2708 , 2020

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

4

The Current State of Newborn Screening in the United States:

Fabie, Noelle Andrea V. ; Pappas, Kara B. ; Feldman, Gerald L.
Pediatric Clinics of North America. 66 (2019) 2 - p. 369-386 , 2019

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

5

Additional file 3 of Rare deleterious mutations of HNRNP ge..:

Madelyn A. Gillentine (10669950) ; Tianyun Wang (2884355) ; Kendra Hoekzema (3312819)...
https://figshare.com/articles/journal_contribution/Additional_file_3_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450793. , 2021

Link: https://doi.org/10.6084/..

6

Additional file 2 of Rare deleterious mutations of HNRNP ge..:

Madelyn A. Gillentine (10669950) ; Tianyun Wang (2884355) ; Kendra Hoekzema (3312819)...
https://figshare.com/articles/journal_contribution/Additional_file_2_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450784. , 2021

Link: https://doi.org/10.6084/..

7

Additional file 1 of Rare deleterious mutations of HNRNP ge..:

Madelyn A. Gillentine (10669950) ; Tianyun Wang (2884355) ; Kendra Hoekzema (3312819)...
https://figshare.com/articles/dataset/Additional_file_1_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450781. , 2021

Link: https://doi.org/10.6084/..

8

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
10.1186/s13073-021-00870-6. , 2021

Link: https://hdl.handle.net/1..

9

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056596/. , 2021

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

10

Rare deleterious mutations of HNRNP genes result in shared ..:

Madelyn A. Gillentine ; Tianyun Wang ; Kendra Hoekzema...
https://doi.org/10.1186/s13073-021-00870-6. , 2021

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

11

Pre-operative enteral feeding in single-ventricle CHD patie..:

Pappas, Lucy B. ; Erickson, Lori A. ; Ricketts, Amy M....
Cardiology in the Young. 34 (2023) 2 - p. 364-369 , 2023

Link: https://doi.org/10.1017/..

12

Gender Role Across Development in Adults with 46,XY Disorde..:

Pappas, K B. ; Wisniewski, A.B. ; Migeon, C.J.
Journal of Pediatric Endocrinology and Metabolism. 21 (2008) 7 - p. , 2008

Link: https://doi.org/10.1515/..

13

Age-related amrinone pharmacokinetics in a pediatric popula..:

ALLEN-WEBB, ELIZABETH M. ; ROSS, MITCHELL P. ; PAPPAS, JEANNETTE B...
Critical Care Medicine. 22 (1994) 6 - p. 1016-1024 , 1994

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

14

P330: Gabriele-de Vries syndrome: Exploring the phenotype o..:

Asato, Mariane Tomiyoshi ; Lehman, April ; Pappas, Kara.
Genetics in Medicine Open. 1 (2023) 1 - p. 100358 , 2023

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

15

ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC..:

Ellenberg, Elisheva ; Kaur, Shagun ; Pappas, Kara...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107411 , 2023

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