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Quijada-Fraile, Pilar
40  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Identification of clinical variants beyond the exome in inb..:

Soriano Sexto, Alejandro ; Gallego Martínez, Diana ; Leal Pérez, M Fátima...
International Journal of Molecular Sciences.  , 2023
Link: http://hdl.handle.net/10..
 
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2

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
2077-0383.  , 2022
Link: http://hdl.handle.net/10..
 
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3

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654865/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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4

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
http://hdl.handle.net/10668/21206.  , 2022
Link: http://hdl.handle.net/10..
 
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5

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457033/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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6

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
2077-0383.  , 2022
Link: http://hdl.handle.net/10..
 
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7

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and..:

Alcaide, Patricia ; Ferrer-López, Isaac ; Gutierrez, Leticia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145342/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
http://hdl.handle.net/10668/21206.  , 2022
Link: http://hdl.handle.net/10..
 
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9

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
American Journal of Human Genetics.  , 2021
Link: https://ddd.uab.cat/reco..
 
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10

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M ; Richer, Julie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595931/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

Clinical features and health-related quality of life in adu..:

Quijada-Fraile, Pilar ; Arranz Canales, Elena ; Martín-Hernández, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565075/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Value of genetic analysis for confirming inborn errors of m..:

Navarrete, Rosa ; Leal, Fátima ; Vega, Ana I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

Genes and Variants Underlying Human Congenital Lactic Acido..:

Bravo-Alonso, Irene ; Navarrete, Rosa ; Vega, Ana Isabel...
2077-0383.  , 2019
Link: http://hdl.handle.net/10..
 
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14

Genes and Variants Underlying Human Congenital Lactic Acido..:

Bravo-Alonso, Irene ; Navarrete, Rosa ; Vega, Ana Isabel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912785/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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15

Genes and variants underlying human congenital lactic acido..:

Bravo-Alonso, Irene ; Navarrete, Rosa ; Vega, Ana Isabel...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2019
Link: http://hdl.handle.net/10..
 
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