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Author/Creator Rivera, Isabel

1. Reduced response of Cystathionine Beta‐Synthase (CBS) to S‐Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Issue 2 (23rd August 2013)

Authors:
Mendes, Marisa I. S.; Colaço, Henrique G.; Smith, Desirée E. C.; Ramos, Rúben J. J. F.; Pop, Ana; van Dooren, Silvy J. M.; Tavares de Almeida, Isabel; Kluijtmans, Leo A. J.; Janssen, Mirian C. H.; Rivera, Isabel; Salomons, Gajja S.; Leandro, Paula; Blom, Henk J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 2(2014)
Page Start:
245
Record Type:
Journal Article
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2. An efficient method for simultaneous species, individual, and sex identification via in‐solution single nucleotide polymorphism capture from low‐quality scat samples. (25th November 2021)

Authors:
Parker, Lillian D.; Campana, Michael G.; Quinta, Jessica D.; Cypher, Brian; Rivera, Isabel; Fleischer, Robert C.; Ralls, Katherine; Wilbert, Tammy R.; Boarman, Ryan; Boarman, William I.; Maldonado, Jesús E.
Journal:
Molecular ecology resources
Issue:
Volume 22:Number 4(2022)
Page Start:
1345
Record Type:
Journal Article
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3. Genetic analyses are more sensitive than morphological inspection at detecting the presence of threatened Mojave desert tortoise (Gopherus agassizii) remains in canid scat and raven pellets. Issue 6 (7th April 2022)

Authors:
Parker, Lillian D.; Quinta, Jessica D.; Rivera, Isabel; Cypher, Brian L.; Kelly, Erica C.; Campana, Michael G.; Fleischer, Robert C.; Boarman, Ryan; Boarman, William I.; Maldonado, Jesús E.
Journal:
Conservation science and practice
Issue:
Volume 4:Issue 6(2022)
Page Start:
n/a
Record Type:
Journal Article
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4. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. Issue 1 (8th June 2013)

Authors:
Coelho, Ana I.; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; Paiva, Sandra; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Cardoso, M. Teresa; Ferreira, Elena; Sequeira, Sílvia; Leite, Margarida; Silva, Maria João; de Almeida, Isabel Tav...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
43
Record Type:
Journal Article
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7. Insights into the Regulatory Domain of Cystathionine Beta‐Synthase: Characterization of Six Variant Proteins. Issue 10 (31st July 2014)

Authors:
Mendes, Marisa I. S.; Santos, Ana Sofia; Smith, Desirée E. C.; Lino, Paulo Roque; Colaço, Henrique G.; de Almeida, Isabel Tavares; Vicente, João B.; Salomons, Gajja S.; Rivera, Isabel; Blom, Henk J.; Leandro, Paula
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1195
Record Type:
Journal Article
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9. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. Issue 3 (20th December 2014)

Authors:
Sperl, Wolfgang; Fleuren, Leanne; Freisinger, Peter; Haack, Tobias B.; Ribes, Antonia; Feichtinger, René G.; Rodenburg, Richard J.; Zimmermann, Franz A.; Koch, Johannes; Rivera, Isabel; Prokisch, Holger; Smeitink, Jan A.; Mayr, Johannes A.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
391
Record Type:
Journal Article
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