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Rodriguez‐Buritica, David F.
71
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Online (71)
Mediatypes
Articles (Online) (54)
OpenAccess-fulltext (17)
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1
NEXMIF pathogenic variants in individuals of Korean, Vietna..:
Langley, Elizabeth
;
Farach, Laura S.
;
Koenig, Mary K.
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1688-1692 , 2022
Link:
https://doi.org/10.1002/..
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2
The youngest pair of siblings with Mucopolysaccharidosis ty..:
Frigeni, Marta
;
Rodriguez‐Buritica, David F.
;
Saavedra, Heather
...
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3510-3516 , 2021
Link:
https://doi.org/10.1002/..
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3
CLARITY: Co‐occurrences in achondroplasia—craniosynostosis,..:
Legare, Janet M.
;
Pauli, Richard M.
;
Hecht, Jacqueline T.
...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1168-1174 , 2021
Link:
https://doi.org/10.1002/..
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4
Trial interviews to explore glycogen storage disease type I..:
Turner-Bowker, Diane
;
Malkus, Betsy
;
Egan, Shayna
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108269 , 2024
Link:
https://doi.org/10.1016/..
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5
A Phase 1/2 first-in-human study to evaluate the safety, to..:
Rodriguez-Buritica, David F.
;
Mozaffar, Tahseen
;
Comi, Giacomo P.
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108250 , 2024
Link:
https://doi.org/10.1016/..
?
6
Effects of DTX401 gene therapy administration on endocrine ..:
Derks, Terry G.J.
;
Rodriguez-Buritica, David F.
;
Riba-Wolman, Rebecca
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108313 , 2024
Link:
https://doi.org/10.1016/..
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7
Achondroplasia natural history study (CLARITY): 60-year exp..:
Nahm, Nickolas J.
;
Mackenzie, W. G. Stuart
;
Mackenzie, William G.
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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8
Route of delivery does not impact postnatal surgical morbid..:
Brar, Bobby K.
;
Bober, Michael B.
;
Gough, Ethan
...
Genetics in Medicine. 25 (2023) 7 - p. 100845 , 2023
Link:
https://doi.org/10.1016/..
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9
COHORT 1-4 RESULTS FROM A PHASE 1/2 CLINICAL TRIAL OF AN AA..:
Rodriguez-Buritica, David F.
;
Ahmad, Ayesha
;
Pico, Maria-Luz Couce
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 296 , 2022
Link:
https://doi.org/10.1016/..
?
10
Laparoscopic ovarian tissue harvesting for cryopreservation..:
Vash-Margita, Alla
;
Szymanska-Vandendriessche, Katarzyna
;
Gunther, Kathryn
...
Fertility and Sterility. 118 (2022) 5 - p. 982-984 , 2022
Link:
https://doi.org/10.1016/..
?
11
Bone Health in Adults with Phenylketonuria: A Cross-Section..:
Aggarwal, Anjali
;
Northrup, Hope
;
Rodriguez-Buritica, David F.
..
Journal of Inborn Errors of Metabolism and Screening. 9 (2021) - p. , 2021
Link:
https://doi.org/10.1590/..
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12
FERTILITY PRESERVATION MANAGEMENT AND OVARIAN TISSUE CRYOPR..:
Szymanska, Katarzyna
;
Vash-Margita, Alla
;
Gunther, Kathryn
..
Fertility and Sterility. 116 (2021) 3 - p. e57 , 2021
Link:
https://doi.org/10.1016/..
?
13
Updated International Tuberous Sclerosis Complex Diagnostic..:
Northrup, Hope
;
Aronow, Mary E.
;
Bebin, E. Martina
...
Pediatric Neurology. 123 (2021) - p. 50-66 , 2021
Link:
https://doi.org/10.1016/..
?
14
Growth in achondroplasia including stature, weight, weight-..:
Hoover-Fong, Julie E.
;
Schulze, Kerry J.
;
Alade, Adekemi Y.
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
15
Glycogen Storage Disease Type Ia: Current Management Option..:
Derks, Terry G. J.
;
Rodriguez-Buritica, David F.
;
Ahmad, Ayesha
...
Nutrients. 13 (2021) 11 - p. 3828 , 2021
Link:
https://doi.org/10.3390/..
1-15