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Moran, Rocio
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1

eP223: Dominant-acting MAP3K20 variants cause split-foot ma..:

Rosenfeld, Jill ; Shealy, Amy ; Eble, Tanya...
Genetics in Medicine.  24 (2022)  3 - p. S138-S139 , 2022
Link: https://doi.org/10.1016/..
 
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2

Challenges of diagnosis and management in children with lat..:

Truong, Nhu-Hac ; Shealy, Amy ; Moran, Rocio..
Molecular Genetics and Metabolism.  132 (2021)  - p. S172-S173 , 2021
Link: https://doi.org/10.1016/..
 
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3

Deletion of conserved non‐coding sequences downstream from ..:

Liao, Jun ; Coffman, Keith A. ; Locker, Joseph...
Molecular Genetics & Genomic Medicine.  9 (2021)  4 - p. , 2021
Link: https://doi.org/10.1002/..
 
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4

Pathogenic variants in USP7 cause a neurodevelopmental diso..:

Fountain, Michael D. ; Oleson, David S. ; Rech, Megan E....
Genetics in Medicine.  21 (2019)  8 - p. 1797-1807 , 2019
Link: https://doi.org/10.1038/..
 
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5

Patient Decisions to Receive Secondary Pharmacogenomic Find..:

Hicks, J. Kevin ; Shealy, Amy ; Schreiber, Allison...
Clinical and Translational Science.  11 (2017)  1 - p. 71-76 , 2017
Link: https://doi.org/10.1111/..
 
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6

Prevalence of thoracic aortopathy in patients with juvenile..:

Heald, Brandie ; Rigelsky, Christina ; Moran, Rocio...
American Journal of Medical Genetics Part A.  167 (2015)  8 - p. 1758-1762 , 2015
Link: https://doi.org/10.1002/..
 
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7

Systemic connective tissue features in women with fibromusc..:

O'Connor, Sarah ; Kim, Esther SH ; Brinza, Ellen...
Vascular Medicine.  20 (2015)  5 - p. 454-462 , 2015
Link: https://doi.org/10.1177/..
 
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8

NOD2-associated autoinflammatory disease: a large cohort st..:

Yao, Qingping ; Shen, Min ; McDonald, Christine...
Rheumatology.  54 (2015)  10 - p. 1904-1912 , 2015
Link: https://doi.org/10.1093/..
 
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9

Granulomatous disease associated with NOD2 sequence variant..:

Shen, Min ; Moran, Rocio ; Tomecki, Kenneth J..
Seminars in Arthritis and Rheumatism.  45 (2015)  3 - p. 357-360 , 2015
Link: https://doi.org/10.1016/..
 
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10

Correspondence to Vorselaars et al. thoracic aorta dilation..:

Heald, Brandie ; Rigelsky, Christina ; Moran, Rocio...
American Journal of Medical Genetics Part A.  170 (2015)  3 - p. 813-813 , 2015
Link: https://doi.org/10.1002/..
 
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11

Loeys–Dietz syndrome is a specific phenotype and not a conc..:

Pyeritz, Reed ; Jondeau, Guillaume ; Moran, Rocio...
Genetics in Medicine.  16 (2014)  8 - p. 641-642 , 2014
Link: https://doi.org/10.1038/..
 
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12

Congenital Heart Defects:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics,
Moran, Rocio ; Robin, Nathaniel H. - p. 1-51 , 2013
Link: https://doi.org/10.1016/..
 
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13

Phosphoribosylpyrophosphate synthetase superactivity and re..:

Moran, Rocio ; Kuilenburg, André B.P. ; Duley, John...
American Journal of Medical Genetics Part A.  158A (2012)  2 - p. 455-460 , 2012
Link: https://doi.org/10.1002/..
 
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14

Low yield of genetic testing for known vascular connective ..:

Poloskey, Stacey L ; Kim, Esther SH ; Sanghani, Ruchi...
Vascular Medicine.  17 (2012)  6 - p. 371-378 , 2012
Link: https://doi.org/10.1177/..
 
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15

Neonatal Stroke and Progressive Leukoencephalopathy in a Ch..:

Moosa, Ahsan N.V. ; Traboulsi, Elias I. ; Reid, Janet...
Journal of Child Neurology.  28 (2012)  4 - p. 531-534 , 2012
Link: https://doi.org/10.1177/..
 
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