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81

Rastreio neonatal da homocistinúria clássica revela uma elevada frequência da deficiência em MAT I/III na Península Ibérica

by Marcão, Ana

Published 2016

Other Authors: “...Vilarinho, Laura...”
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82

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

by Marcão, Ana

Published 2015

Other Authors: “...Vilarinho, Laura...”
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83

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

by Nogueira, Célia

Published 2013

Other Authors: “...Vilarinho, Laura...”
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84

Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

by J. Gonçalves, Emanuel

Published 2012

Other Authors: “...Vilarinho, Laura...”
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85

Iodine supplementation: compliance and association with adverse obstetric and neonatal outcomes

by Lopes-Pereira, Maria

Published 2022

Other Authors: “...Vilarinho, Laura...”
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86

Exercise training counteracts the cardiac metabolic remodelling induced by experimental pulmonary arterial hypertension

by Morais, Filipe

Published 2022

Other Authors: “...Vilarinho, Laura...”
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87

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

by Encarnação, Marisa

Published 2020

Other Authors: “...Vilarinho, Laura...”
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88

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

by Marcão, Ana

Published 2018

Other Authors: “...Vilarinho, Laura...”
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89

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

by Rocha, Hugo

Published 2014

Other Authors: “...Vilarinho, Laura...”
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90

Prevalência ao nascimento dos défices da β-oxidação mitocondrial dos ácidos gordos na Península Ibérica

by Rocha, Hugo

Published 2015

Other Authors: “...Vilarinho, Laura...”
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91

Trimetilaminúria (Síndroma de odor a peixe) uma doença subestimada: espectro mutacional da população portuguesa

by Ferreira, Filipa

Published 2015

Other Authors: “...Vilarinho, Laura...”
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92

Suspecting classical homocystinuria in an adolescent born before the newborn screening program

by de Carvalho, Fábia Ginja

Published 2021

Other Authors: “...Vilarinho, Laura...”
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93

Suspecting classical homocystinuria in an adolescent born before the newborn screening program

by Carvalho,Fábia Ginja de

Published 2021

Other Authors: “...Vilarinho,Laura...”
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94

Suspecting classical homocystinuria in an adolescent born before the newborn screening program

by Carvalho, Fábia

Published 2021

Other Authors: “...Vilarinho, Laura...”
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95

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

by Encarnação, Marisa

Published 2020

Other Authors: “...Vilarinho, Laura...”
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96

Estratégia Nacional para a Medicina Genómica - PT_MedGen: desafios e prioridades

by Almeida, Fernando de

Published 2022

Other Authors: “...Vilarinho, Laura...”
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97

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

by Encarnação, Marisa

Published 2020

Other Authors: “...Vilarinho, Laura...”
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98

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

by Ferreira, Filipa

Published 2018

Other Authors: “...Vilarinho, Laura...”
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99

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial...

by Nogueira, Célia

Published 2019

Other Authors: “...Vilarinho, Laura...”
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100

Espectro mutacional da cistinose em Portugal, 1998-2017

by Ferreira, Filipa

Published 2019

Other Authors: “...Vilarinho, Laura...”
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