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Arnold, Georgianne
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1

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/..
 
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2

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/..
 
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3

Initial results from the PHEFREE longitudinal natural histo..:

Christ, Shawn E. ; Arnold, Georgianne ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism.  143 (2024)  1-2 - p. 108541 , 2024
Link: https://doi.org/10.1016/..
 
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4

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/..
 
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5

Early diagnosis and treatment by newborn screening (NBS) or..:

Gillingham, Melanie B. ; Choi, Dongseok ; Gregor, Ashley...
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 746-756 , 2024
Link: https://doi.org/10.1002/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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