E-LIB Suche - Ergebnisse für: Pappas, Kara

1

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/..

2

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/..

3

Case of CLPB deficiency solved by HiFi long read genome seq..:

Farrow, Emily ; Jay, Allison ; Means, John...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2908-2912 , 2023

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

4

ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SC..:

Conway, Robert ; Moloney, Shawn ; Bannick, Allison..
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 267 , 2022

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

5

Child with Suspected Metabolic Disorder:

, In: Symptom-Based Approach to Pediatric Neurology,

Pappas, Kara ; Fabie, Noelle Andrea V. ; Feldman, Gerald L. - p. 639-652 , 2022

Link: https://doi.org/10.1007/..

6

Compound heterozygous variants in GOSR2 associated with con..:

Henige, Hannah ; Kaur, Shagun ; Pappas, Kara
European Journal of Medical Genetics. 64 (2021) 4 - p. 104184 , 2021

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

7

Rapid exome and genome sequencing in critically ill pediatr..:

Hicks, Melissa ; Kaur, Shagun ; Conway, Robert..
Molecular Genetics and Metabolism. 132 (2021) - p. S111-S112 , 2021

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

8

Two unrelated cases of mild methylmalonic acidemia-mutase d..:

Campbell, Stephanie ; Younan, Marissa ; Pappas, Kara
Molecular Genetics and Metabolism. 132 (2021) - p. S15 , 2021

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

9

An infant with severe combined immunodeficiency, osteopetro..:

Singh, Pragya ; Secord, Elizabeth ; Pappas, Kara.
Pediatric Blood & Cancer. 68 (2020) 1 - p. , 2020

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

10

Newborn Screening:

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

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

11

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/..

12

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/..

13

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/..

14

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

Mariane Tomiyoshi Asato ; April Lehman ; Kara Pappas.
http://www.sciencedirect.com/science/article/pii/S2949774423003588. , 2023

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

15

Chronic Kidney Disease and Left Ventricular Assist Device P..:

Chickerillo, Krystina ; Andrade, Ambar A. ; Kukla, Lisa...
Journal of Cardiac Failure. 25 (2019) 8 - p. S165 , 2019

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