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Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

Neurology, 2004-09, Vol.63 (6), p.1108-1110

2004

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Contact investigation based on serial interferon-gamma release assays (IGRA) in children from the hematology-oncology ward after exposure to a patient with pulmonary tuberculosis

Infection, 2013-08, Vol.41 (4), p.827-831

2013

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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.262-275

2014

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Lopinavir pharmacokinetic profiles in HIV-infected patients during rifabutin-based anti-mycobacterial therapy

Journal of antimicrobial chemotherapy, 2012-10, Vol.67 (10), p.2470-2473

2012

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

Neuromuscular disorders : NMD, 2004-11, Vol.14 (11), p.750-753

2004

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Relationship between gait profile score and clinical assessments of gait in post-stroke patients

Journal of rehabilitation medicine, 2021-05, Vol.53 (5), p.jrm00192-jrm00192

2021

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Describing mortality trends for major cancer sites in 133 intermediate regions of Brazil and an ecological study of its causes

BMC cancer, 2019-10, Vol.19 (1), p.940-940, Article 940

2019

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Acute and late changes in intraarticular cytokine levels following anterior cruciate ligament injury

Journal of orthopaedic research, 2013-02, Vol.31 (2), p.315-321

2013

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Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Journal of human genetics, 2020-10, Vol.65 (10), p.855-864

2020

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Three-dimensional geometric morphometric analysis of cranio-facial sexual dimorphism in a Central European sample of known sex

Homo, 2010-02, Vol.61 (1), p.16-32

2010

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Expression of human Interferon Regulatory Factor 3 (IRF-3) in alveolar macrophages relates to clinical and functional traits in COPD

Respiratory research, 2024-08, Vol.25 (1), p.315-11

2024

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Self-Care of Adults with Type 2 Diabetes During the COVID-19 Pandemic: A Qualitative Interpretive Description Study

Clinical nursing research, 2023-01, Vol.32 (1), p.73-83

2023

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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males

Pediatrics (Evanston), 2017-09, Vol.140 (3)

2017

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Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

Journal of the neurological sciences, 2016-12, Vol.371, p.81-84

2016

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Arthroscopic Anterior Cruciate Ligament Repair for Proximal Anterior Cruciate Ligament Tears in Skeletally Immature Patients: Surgical Technique and Preliminary Results

The knee, 2017-01, Vol.24 (1), p.40-48

2017

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Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Human mutation, 2017-02, Vol.38 (2), p.216-225

2017

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Guided Growth of the Proximal Femur for the Management of Hip Dysplasia in Children With Cerebral Palsy

Journal of pediatric orthopaedics, 2019-09, Vol.39 (8), p.e622

2019

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Effects of ACL Reconstructive Surgery on Temporal Variations of Cytokine Levels in Synovial Fluid

Mediators of inflammation, 2016-01, Vol.2016 (2016), p.1-7

2016

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Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

The Journal of International Advanced Otology, 2023-05, Vol.19 (3), p.260-262

2023

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The submerged dyslexia iceberg: how many school children are not diagnosed? Results from an Italian study

PloS one, 2012-10, Vol.7 (10), p.e48082

2012

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Constraint-Induced Movement Therapy in multiple sclerosis: Safety and three-dimensional kinematic analysis of upper limb activity. A randomized single-blind pilot study

NeuroRehabilitation (Reading, Mass.), 2019-01, Vol.45 (2), p.247-254

2019

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Human mutation, 2019-09, Vol.40 (9), p.1346-1363

2019

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A new selective antagonist of the nociceptin receptor

British journal of pharmacology, 1998-01, Vol.123 (2), p.163-165

1998

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Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

Contact investigation based on serial interferon-gamma release assays (IGRA) in children from the hematology-oncology ward after exposure to a patient with pulmonary tuberculosis

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Lopinavir pharmacokinetic profiles in HIV-infected patients during rifabutin-based anti-mycobacterial therapy

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

Relationship between gait profile score and clinical assessments of gait in post-stroke patients

Describing mortality trends for major cancer sites in 133 intermediate regions of Brazil and an ecological study of its causes

Acute and late changes in intraarticular cytokine levels following anterior cruciate ligament injury

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Three-dimensional geometric morphometric analysis of cranio-facial sexual dimorphism in a Central European sample of known sex

Expression of human Interferon Regulatory Factor 3 (IRF-3) in alveolar macrophages relates to clinical and functional traits in COPD

Self-Care of Adults with Type 2 Diabetes During the COVID-19 Pandemic: A Qualitative Interpretive Description Study

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

Arthroscopic Anterior Cruciate Ligament Repair for Proximal Anterior Cruciate Ligament Tears in Skeletally Immature Patients: Surgical Technique and Preliminary Results

Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Guided Growth of the Proximal Femur for the Management of Hip Dysplasia in Children With Cerebral Palsy

Effects of ACL Reconstructive Surgery on Temporal Variations of Cytokine Levels in Synovial Fluid

Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

The submerged dyslexia iceberg: how many school children are not diagnosed? Results from an Italian study

Constraint-Induced Movement Therapy in multiple sclerosis: Safety and three-dimensional kinematic analysis of upper limb activity. A randomized single-blind pilot study

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

A new selective antagonist of the nociceptin receptor

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