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Parisi, Melissa A
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1

The National Institutes of Health INvestigation of Co‐occur..:

Bardhan, Sujata ; Li, Huiqing ; Tarver, Erika...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  196 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

P263: The NIH INCLUDE Project: An opportunity to advance qu..:

Parisi, Melissa ; Bardhan, Sujata ; Dows, Rachel...
Genetics in Medicine Open.  1 (2023)  1 - p. 100291 , 2023
Link: https://doi.org/10.1016/..
 
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3

Note from the editors:

Urv, Tiina K. ; Parisi, Melissa A.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 5-6 , 2023
Link: https://doi.org/10.1002/..
 
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4

When is the best time to screen and evaluate for treatable ..:

Parisi, Melissa A. ; Caggana, Michele ; Cohen, Jennifer L....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 44-55 , 2023
Link: https://doi.org/10.1002/..
 
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5

Are we prepared to deliver gene‐targeted therapies for rare..:

Yu, Timothy W. ; Kingsmore, Stephen F. ; Green, Robert C....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 7-12 , 2023
Link: https://doi.org/10.1002/..
 
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6

Gene‐targeted therapies: Overview and implications:

Brooks, P J ; Urv, Tiina K. ; Parisi, Melissa A.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 13-18 , 2023
Link: https://doi.org/10.1002/..
 
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7

eP207: NIH Down syndrome resources: DS-Connect Registry and..:

Parisi, Melissa ; Bardhan, Sujata ; Finley, Cara...
Genetics in Medicine.  24 (2022)  3 - p. S128-S129 , 2022
Link: https://doi.org/10.1016/..
 
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8

Systematic analysis of physical examination characteristics..:

Forsyth, RaeLynn ; Parisi, Melissa A. ; Altintas, Burak...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  1 - p. 121-130 , 2022
Link: https://doi.org/10.1002/..
 
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9

Newborn screening research sponsored by theNIH: From diagno..:

Minear, Mollie A. ; Phillips, Megan N. ; Kau, Alice.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  2 - p. 138-152 , 2022
Link: https://doi.org/10.1002/..
 
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10

Growth in Joubert syndrome: Growth curves and physical meas..:

Knoll, Jasmine ; Altintas, Burak ; Gahl, William A...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 847-857 , 2021
Link: https://doi.org/10.1002/..
 
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11

Ethical, legal, and social issues (ELSI) in rare diseases: ..:

Hartman, Adam L. ; Hechtelt Jonker, Anneliene ; Parisi, Melissa A....
European Journal of Human Genetics.  28 (2019)  2 - p. 174-181 , 2019
Link: https://doi.org/10.1038/..
 
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12

The molecular genetics of Joubert syndrome and related cili..:

Parisi, Melissa A. ; Gunay-Aygun, Meral
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 25-49 , 2019
Link: https://doi.org/10.3233/..
 
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13

Healthcare recommendations for Joubert syndrome:

Bachmann‐Gagescu, Ruxandra ; Dempsey, Jennifer C. ; Bulgheroni, Sara...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 229-249 , 2019
Link: https://doi.org/10.1002/..
 
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14

Characteristics of Liver Disease in 100 Individuals With Jo..:

Strongin, Anna ; Heller, Theo ; Doherty, Dan...
Journal of Pediatric Gastroenterology and Nutrition.  66 (2018)  3 - p. 428-435 , 2018
Link: https://doi.org/10.1097/..
 
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15

Joubert Syndrome: Ophthalmological Findings in Correlation ..:

Brooks, Brian P. ; Zein, Wadih M. ; Thompson, Amy H....
Ophthalmology.  125 (2018)  12 - p. 1937-1952 , 2018
Link: https://doi.org/10.1016/..
 
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