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Font-Montgomery, Esperanza
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1

Improving the performance of newborn screening for mucopoly..:

Peck, Dawn ; White, Amy ; Pino, Gisele...
Molecular Genetics and Metabolism.  132 (2021)  - p. S23 , 2021
Link: https://doi.org/10.1016/..
 
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2

The role of biomarkers for the follow up of infants with po..:

Pino, Gisele ; Studinski, April ; White, Amy...
Molecular Genetics and Metabolism.  132 (2021)  - p. S20 , 2021
Link: https://doi.org/10.1016/..
 
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3

Prospective evaluation of kidney and liver disease in autos..:

Abdul Majeed, Nehna ; Font-Montgomery, Esperanza ; Lukose, Linda...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 267-276 , 2020
Link: https://doi.org/10.1016/..
 
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4

Response to immunotherapy in a patient with adult onset Lei..:

Chuquilin, Miguel ; Govindarajan, Raghav ; Peck, Dawn.
Molecular Genetics and Metabolism Reports.  8 (2016)  - p. 28-32 , 2016
Link: https://doi.org/10.1016/..
 
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5

Newborn screening for Fabry disease: Is the A143T allele a ..:

Atherton, Andrea M. ; Doheny, Dana ; Peck, Dawn...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S14-S15 , 2015
Link: https://doi.org/10.1016/..
 
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6

The first two years of full population pilot newborn screen..:

Atherton, Andrea M. ; Peck, Dawn ; Christensen, Katherine...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S15 , 2015
Link: https://doi.org/10.1016/..
 
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7

PKHD1 sequence variations in 78 children and adults with au..:

Gunay-Aygun, Meral ; Tuchman, Maya ; Font-Montgomery, Esperanza...
Molecular Genetics and Metabolism.  99 (2010)  2 - p. 160-173 , 2010
Link: https://doi.org/10.1016/..
 
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8

Autosomal recessive polycystic kidney disease and congenita..:

Turkbey, Baris ; Ocak, Iclal ; Daryanani, Kailash...
Pediatric Radiology.  39 (2008)  2 - p. 100-111 , 2008
Link: https://doi.org/10.1007/..
 
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9

Response to Immunotherapy in a Patient with Adult Onset Lei..:

Chuquilin Arista, Miguel ; Govindarajan, Raghav ; Font - Montgomery, Esperanza
Neurology.  86 (2016)  16_supplement - p. , 2016
Link: https://doi.org/10.1212/..
 
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10

Response to letter to the editor: Why does Leigh syndrome r..:

Chuquilin, Miguel ; Govindarajan, Raghav ; Peck, Dawn.
Molecular Genetics and Metabolism Reports.  8 (2016)  - p. 85-86 , 2016
Link: https://doi.org/10.1016/..
 
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11

Delineating the genotypic and phenotypic spectrum of HECW2-..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
10.1136/jmedgenet-2021-107871.  , 2023
Link: http://hdl.handle.net/10..
 
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12

Clinical, biochemical and genetic characteristics of MOGS-C..:

Shimada, Shino ; Ng, Bobby G ; White, Amy L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9813274/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Delineating the genotypic and phenotypic spectrum of HECW2 ..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-107871.  , 2021
Link: https://hal.science/hal-..
 
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14

Delineating the genotypic and phenotypic spectrum of HECW2 ..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-107871.  , 2021
Link: https://hal.science/hal-..
 
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15

Delineating the genotypic and phenotypic spectrum of HECW2 ..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-107871.  , 2021
Link: https://hal.science/hal-..
 
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