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First Year of TREC-Based National SCID Screening in Sweden

International journal of neonatal screening, 2021-08, Vol.7 (3), p.59

2021

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PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

NPJ Parkinson's Disease, 2024-04, Vol.10 (1), p.93-93, Article 93

2024

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Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

JIMD reports, 2022-03, Vol.63 (2), p.181-190

2022

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Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

International journal of neonatal screening, 2017-06, Vol.3 (2), p.11

2017

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Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

International Journal of Endocrinology, 2012-01, Vol.2012, p.504904-7

2012

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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

International Journal of Endocrinology, 2016-01, Vol.2016, p.4209670-10

2016

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Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

The Journal of steroid biochemistry and molecular biology, 2020-07, Vol.201, p.105699-105699, Article 105699

2020

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Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Journal of the Endocrine Society, 2019-01, Vol.3 (1), p.250-263

2019

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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Clinical biochemistry, 2019-11, Vol.73, p.50-56

2019

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In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

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AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report

The New England journal of medicine, 2009-07, Vol.361 (5), p.489

2009

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Mutation in AGC1 Deficiency Associated with Global Cerebral Hypomyelination

The New England journal of medicine, 2009, Vol.361 (5), p.489-495

2009

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Mechanisms in Disorders of Sex Development

Barbaro, Michela

2008

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.143-149

2007

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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

JIMD Reports - Case and Research Reports, 2012/1, 2012-01, Vol.4, p.67-73

2012

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Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

JIMD reports, 2019, Vol.50 (1), p.1-8

2019

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Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Clinical endocrinology, 2012, Vol.76 (5), p.766-768

2012

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DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis

HORMONE RESEARCH, 2008, Vol.70, p.29

2008

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La spugna è la mia anima: omaggio a Piero Ceccucci

Abbati, Orietta Gori, Barbara Graziani, Michela

2016

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The Burden of Respiratory Alterations during Sleep on Comorbidities in Obstructive Sleep Apnoea (OSA)

Brain sciences, 2022-10, Vol.12 (10), p.1359

2022

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Endo‐therapies for biliary duct‐to‐duct anastomotic stricture after liver transplantation: Outcomes of a nationwide survey

Liver international, 2019-07, Vol.39 (7), p.1355-1362

2019

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Thoracic ultrasound combined with low-dose computed tomography may represent useful screening strategy in highly exposed population in the industrial city of Taranto (Italy)

Frontiers in medicine, 2023-05, Vol.10, p.1146807-1146807

2023

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Data-Driven Thyroglobulin Cutoffs for Low- and Intermediate-Risk Thyroid Cancer Follow-Up: ITCO Real-World Analysis

The journal of clinical endocrinology and metabolism, 2024-08

2024

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Impact of CT Scan Phenotypes in Clinical Manifestations, Management and Outcomes of Hospitalised Patients With COVID-19

Archivos de bronconeumología (English ed.), 2021-07

2021

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Health and social impacts of COPD and the problem of under-diagnosis

Multidisciplinary respiratory medicine, 2014-12, Vol.9 (1), p.63-63, Article 63

2014

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First Year of TREC-Based National SCID Screening in Sweden

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report

Mutation in AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Mechanisms in Disorders of Sex Development

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis

La spugna è la mia anima: omaggio a Piero Ceccucci

The Burden of Respiratory Alterations during Sleep on Comorbidities in Obstructive Sleep Apnoea (OSA)

Endo‐therapies for biliary duct‐to‐duct anastomotic stricture after liver transplantation: Outcomes of a nationwide survey

Thoracic ultrasound combined with low-dose computed tomography may represent useful screening strategy in highly exposed population in the industrial city of Taranto (Italy)

Data-Driven Thyroglobulin Cutoffs for Low- and Intermediate-Risk Thyroid Cancer Follow-Up: ITCO Real-World Analysis

Impact of CT Scan Phenotypes in Clinical Manifestations, Management and Outcomes of Hospitalised Patients With COVID-19

Health and social impacts of COPD and the problem of under-diagnosis

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