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Zambrano, Regina
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1

P370: Acquired macrocephaly with impaired intellectual deve..:

Spaeth, Christine ; Zambrano, Regina
Genetics in Medicine Open.  2 (2024)  - p. 101264 , 2024
Link: https://doi.org/10.1016/..
 
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2

Bioinformatics characterization of variants of uncertain si..:

Clay, Sloane ; Evans, Adele ; Zambrano, Regina...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

SARS-Cov-2 Infection Uncovering Latent Mycobacterium Leprae..:

Mancuso, Christopher ; Reiter, Paloma ; Zambrano, Regina..
SKIN The Journal of Cutaneous Medicine.  6 (2022)  2 - p. 157-161 , 2022
Link: https://doi.org/10.25251..
 
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4

Heterozygous FOXN1 variant in an Infant with severe T cell ..:

Qayum, Sarah ; Anderson, Margot ; LeBlanc, Zachary..
Journal of Allergy and Clinical Immunology.  149 (2022)  2 - p. AB21 , 2022
Link: https://doi.org/10.1016/..
 
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5

Incongruous and identical: Russell-Silver syndrome phenotyp..:

Meddaugh, Hannah ; Zambrano, Regina
Molecular Genetics and Metabolism.  132 (2021)  - p. S163 , 2021
Link: https://doi.org/10.1016/..
 
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6

Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of ..:

Zambrano, Regina ; Moesch, John ; Davis, Emily R..
Cureus.  , 2020
Link: https://doi.org/10.7759/..
 
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7

8p23.1 duplication syndrome; common, confirmed, and novel f..:

Barber, John C.K. ; Rosenfeld, Jill A. ; Foulds, Nicola...
American Journal of Medical Genetics Part A.  161 (2013)  3 - p. 487-500 , 2013
Link: https://doi.org/10.1002/..
 
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8

Short stature, hearing loss, retinitis pigmentosa, and dist..:

Reeves, Ashley ; Ojha, Kanwal ; Meddaugh, Hannah.
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3535-3539 , 2022
Link: https://doi.org/10.1002/..
 
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9

UBA2 variants underlie a recognizable syndrome with variabl..:

Schnur, Rhonda E. ; Yousaf, Sairah ; Liu, James...
Genetics in Medicine.  23 (2021)  9 - p. 1624-1635 , 2021
Link: https://doi.org/10.1038/..
 
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10

Gorlin-like phenotype in a patient with a PTCH2 variant of ..:

Casano, Kelsey ; Meddaugh, Hannah ; Zambrano, Regina M....
European Journal of Medical Genetics.  63 (2020)  4 - p. 103842 , 2020
Link: https://doi.org/10.1016/..
 
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11

Neonatal mucolipidosis type II alpha/beta due to compound h..:

Wood, Kirsten A. ; Zambrano, Regina M. ; Cheek, Bradley J....
Clinical Case Reports.  5 (2017)  4 - p. 431-434 , 2017
Link: https://doi.org/10.1002/..
 
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12

Variable developmental delays and characteristic facial fea..:

Yu, Andrea C. ; Zambrano, Regina M. ; Cristian, Ingrid...
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1593-1600 , 2017
Link: https://doi.org/10.1002/..
 
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13

Neonatal severe hyperparathyroidism caused by homozygous mu..:

Murphy, Heidi ; Patrick, Jessica ; Báez-Irizarry, Eileen...
European Journal of Medical Genetics.  59 (2016)  4 - p. 227-231 , 2016
Link: https://doi.org/10.1016/..
 
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14

Further evidence that variants in PPP1CB cause a rasopathy ..:

Zambrano, Regina M. ; Marble, Michael ; Chalew, Stuart A....
American Journal of Medical Genetics Part A.  173 (2016)  2 - p. 565-567 , 2016
Link: https://doi.org/10.1002/..
 
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15

Unbalanced translocation 9;16 in two children with dysmorph..:

Zambrano, Regina M. ; Wohler, Elizabeth ; Annerén, Göran...
European Journal of Medical Genetics.  54 (2011)  2 - p. 189-193 , 2011
Link: https://doi.org/10.1016/..
 
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