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Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

BMC medical genomics, 2023-12, Vol.16 (1), p.312-312, Article 312

2023

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Expanding the clinical and genetic spectrum of PCYT2-related disorders

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.e76-e76

2020

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Climate Change Impact on Energy Poverty and Energy Efficiency in the Public Housing Building Stock of Bari, Italy

Climate (Basel), 2022-04, Vol.10 (4), p.55

2022

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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3711-3722

2022

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Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales

Journal of clinical medicine, 2022-04, Vol.11 (8), p.2189

2022

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Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy

Transplant international, 2022-04, Vol.35, p.10454-10454

2022

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Hormonal Contraception and Massive Pulmonary Embolism in a COVID-19 Ambulatory Patient: A Case Report

Clinics and practice, 2021-11, Vol.11 (4), p.914-918

2021

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Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management

International journal of general medicine, 2022-01, Vol.15, p.8677-8684

2022

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Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis

Scientific reports, 2020-08, Vol.10 (1), p.13497-8, Article 13497

2020

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Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre

BMC neurology, 2020-11, Vol.20 (1), p.403-5, Article 403

2020

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Mood disorders and sexual functioning in women with functional hypothalamic amenorrhea

Fertility and sterility, 2010-11, Vol.94 (6), p.2239-2243

2010

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Robotic Single-Site Surgery for Female-to-Male Transsexuals: Preliminary Experience

TheScientificWorld, 2014-01, Vol.2014, p.674579-4

2014

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Le Musée national d'art moderne et Pontus Hulten

Musée National d'Art Moderne (France). Cahiers du Musée National d'Art Moderne, 2017-10, Vol.141, p.46-57

Santamaria, Valentina

2017

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Eculizumab as a promising treatment in thymoma-associated myasthenia gravis

Therapeutic advances in neurological disorders, 2020-06, Vol.13, p.175628642093203

2020

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Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients

Neurology and therapy, 2024-08, Vol.13 (4), p.1069-1080

2024

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Differential activity and clinical utility of latanoprost in glaucoma and ocular hypertension

Clinical ophthalmology (Auckland, N.Z.), 2012-01, Vol.6 (default), p.811-815

2012

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A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis

Therapeutic Advances in Neurological Disorders, 2023-01, Vol.16, p.17562864231191590-17562864231191590

2023

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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Genome medicine, 2023-09, Vol.15 (1), p.1-68, Article 68

2023

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Effect of a contraceptive pill containing estradiol valerate and dienogest (E2V/DNG) in women with menstrually-related migraine (MRM)

Contraception (Stoneham), 2013-09, Vol.88 (3), p.369-375

2013

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Anterior Corneal Surface Irregularity after Descemet-Stripping Endothelial Keratoplasty for Bullous Keratopathy

European journal of ophthalmology, 2016-05, Vol.26 (3), p.209-215

2016

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Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

EBioMedicine, 2021-03, Vol.65, p.103246-103246, Article 103246

2021

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Intestinal Paracoccidioidomycosis: Case report and literature review

International journal of surgery case reports, 2022-02, Vol.91, p.106801-106801, Article 106801

2022

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Hormonal and psycho-relational aspects of sexual function during menopausal transition and at early menopause

Maturitas, 2010-09, Vol.67 (1), p.78-83

2010

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Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Expanding the clinical and genetic spectrum of PCYT2-related disorders

Climate Change Impact on Energy Poverty and Energy Efficiency in the Public Housing Building Stock of Bari, Italy

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales

Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy

Hormonal Contraception and Massive Pulmonary Embolism in a COVID-19 Ambulatory Patient: A Case Report

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management

Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis

Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre

Mood disorders and sexual functioning in women with functional hypothalamic amenorrhea

Robotic Single-Site Surgery for Female-to-Male Transsexuals: Preliminary Experience

Le Musée national d'art moderne et Pontus Hulten

Eculizumab as a promising treatment in thymoma-associated myasthenia gravis

Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients

Differential activity and clinical utility of latanoprost in glaucoma and ocular hypertension

A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Epigenome-wide association study of COVID-19 severity with respiratory failure

Effect of a contraceptive pill containing estradiol valerate and dienogest (E2V/DNG) in women with menstrually-related migraine (MRM)

Anterior Corneal Surface Irregularity after Descemet-Stripping Endothelial Keratoplasty for Bullous Keratopathy

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Intestinal Paracoccidioidomycosis: Case report and literature review

Hormonal and psycho-relational aspects of sexual function during menopausal transition and at early menopause

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