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Pathogens (Basel, Switzerland)|January 5, 2021
Visceral Dissemination of Mucocutaneous Leishmaniasis in a Kidney Transplant RecipientNídia Marques, Manuela Bustorff, Anabela Cordeiro Da Silva, et al.European Journal of Medical Genetics|June 15, 2019
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in malesJoão P Oliveira, Albina Nowak, Frédéric Barbey, et al.Journal of Inherited Metabolic Disease|August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patientsMarisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.Journal of Inherited Metabolic Disease|June 11, 2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in PortugalAna I Coelho, Ruben Ramos, Ana Gaspar, et al.Frontiers in Immunology|October 3, 2022
Increased platelet activation and platelet-inflammasome engagement during chikungunya infectionIsaclaudia Gomes de Azevedo-Quintanilha, Mariana Macedo Campos, Ana Paula Teixeira Monteiro, et al.Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.Journal of Inherited Metabolic Disease|October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyAndrew A M Morris, Viktor Kožich, Saikat Santra, et al.Pageof 12