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Rodriguez‐Buritica, David F.
71  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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