Search Results - "Soeiro, Mariana"

AVALIAÇÃO CLÍNICA E MICROBIOLÓGICA DOS PROTOCOLOS DE SEPSE ABERTOS EM HOSPITAL TERCIÁRIO ENTRE 2014 E 2019 by Ajona, Mariana Soeiro, Mendes, Elisa Donalisio Teixeira

“…Sepse é uma síndrome complexa que se desenvolve como uma respostadesregulada do hospedeiro a uma infecção, associada a uma disfunção orgânica aguda. O tempo de…”
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AVALIAÇÃO CLÍNICA E MICROBIOLÓGICA DOS PROTOCOLOS DE SEPSE ABERTOS EM HOSPITAL TERCIÁRIO ENTRE 2014 E 2019 by Ajona, Mariana Soeiro, Mendes, Elisa Donalisio Teixeira

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VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease by Silva, Daniela Pimenta, Soeiro E Sá, Mariana, Silveira, Fernando, Pinto, Susana, Gromicho, Marta, Sousa, Ana Berta, Leão, Miguel, De Carvalho, Mamede

“…VRK1 encodes a serine/protein kinase possibly involved in pathways related to amyotrophic lateral sclerosis (ALS) pathogenesis. Pathogenic variants in VRK1…”
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Macrodactyly in tuberous sclerosis complex: Case report and review of the literature by Soeiro e Sá, Mariana, Moldovan, Oana, Sousa, Ana Berta

“…Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare manifestation. We report the case of a boy diagnosed with TSC at 2 years…”
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In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease by Cal, Margarida, Godinho, Iolanda, Sá, Mariana Soeiro e, Cunha, Margarida, Carvalho, Rui Marques de

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has…”
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Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion by Rodrigues, Raquel, Soeiro e Sá, Mariana, Sousa, Ana, Sousa, Ana Berta

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Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion by Rodrigues, Raquel, Soeiro e Sá, Mariana, Sousa, Ana, Sousa, Ana Berta

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