E-LIB Suche - Ergebnisse für: Arnold, Georgianne

1

Update from the NIH rare disease consortium for hyperphenyl..:

Arnold, Georgianne ; Christ, Shawn ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108205 , 2024

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

2

A proposal for an updated staging system for LCHADD retinop..:

Wongchaisuwat, Nida ; Gillingham, Melanie B. ; Yang, Paul...
Ophthalmic Genetics. 45 (2024) 2 - p. 140-146 , 2024

Link: https://doi.org/10.1080/..

3

P018: Phenylketonuria families and researchers evaluating e..:

Arnold, Georgianne ; Christ, Shawn ; Lichter-Konecki, Uta...
Genetics in Medicine Open. 2 (2024) - p. 100895 , 2024

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

4

P257: A single institution analysis of in-house whole genom..:

Nelson, Peter ; Vockley, Cate Walsh ; Arnold, Georgianne...
Genetics in Medicine Open. 1 (2023) 1 - p. 100285 , 2023

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

5

Outcomes and genotype correlations in patients with mitocho..:

Lim, Chelsey Chaehee ; Vockley, Jerry ; Ujah, Otobo...
Molecular Genetics and Metabolism Reports. 32 (2022) - p. 100884 , 2022

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

6

Outcomes and genotype-phenotype correlations in 45 individu..:

Lim, Chae Hee ; Vockley, Jerry ; Arnold, Georgianne..
Molecular Genetics and Metabolism. 132 (2021) - p. S83-S84 , 2021

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

7

Improved attention linked to sustained phenylalanine reduct..:

Bilder, Deborah A. ; Arnold, Georgianne L. ; Dimmock, David...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 768-778 , 2021

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

8

Metabolic providers in crisis – Burning out on the road to ..:

Arnold, Georgianne L. ; Kanungo, Shibani ; Bush, Lynn
Molecular Genetics and Metabolism. 134 (2021) 4 - p. 285-286 , 2021

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

9

Successful orthotopic heart transplantation in CPTII defici..:

Arnold, Georgianne L. ; Yester, Jessie ; McCracken, Elizabeth..
Molecular Genetics and Metabolism. 133 (2021) 2 - p. 182-184 , 2021

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

10

Familial Cerebral Cavernous Malformation Syndrome with Conc..:

Algattas, Hanna ; Abou-Al-Shaar, Hussam ; Mendelson, Michael...
Cancer Genetics. 244 (2020) - p. 36-39 , 2020

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

11

Four children with postnatally diagnosed mosaic trisomy 12:..:

Hu, Jie ; Ou, Zhishuo ; Surti, Urvashi...
American Journal of Medical Genetics Part A. 182 (2020) 4 - p. 813-822 , 2020

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

12

Neurocognitive, neuropsychiatric, and neurological outcomes..:

Lowe, Tracy B. ; DeLuca, Jane ; Arnold, Georgianne
Journal for Specialists in Pediatric Nursing. 26 (2020) 1 - p. , 2020

Link: https://doi.org/10.1111/..

13

Similarities and differences in key diagnosis, treatment, a..:

Lowe, Tracy Brock ; DeLuca, Jane ; Arnold, Georgianne L.
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

14

Complex patterns of inheritance, including synergistic hete..:

Vockley, Jerry ; Dobrowolski, Steven F. ; Arnold, Georgianne L....
Molecular Genetics and Metabolism. 128 (2019) 1-2 - p. 1-9 , 2019

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

15

PLPHP deficiency: clinical, genetic, biochemical, and mecha..:

Johnstone, Devon L ; Al-Shekaili, Hilal H ; Tarailo-Graovac, Maja...
Brain. 142 (2019) 3 - p. 542-559 , 2019

Link: https://doi.org/10.1093/..