Maria Teresa Bonati

Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey

Francesco Tagliaferri, Egidio Candela, Giacomo Biasucci, Maria Teresa Bonati et autres

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease

Francesco Baldo, Elena Genova, Valeria Capaci, Irene Marrone et autres

it (code pays fourni par la source)

Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions

Eva Orzan, Claudia Ceretta, Giulia Bresciani, Marta Fantoni et autres

it (code pays fourni par la source)

Listening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome—Our Experience

Tiziana Di Cesare, Paola Michieletto, Maria Teresa Bonati, Federica De et autres

it (code pays fourni par la source)

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy

Beatrice Spedicati, Giulia Pianigiani, Aurora Santin, Vanessa Rebecca Gasparini et autres

it (code pays fourni par la source)

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease

Luisa Zupin, Valeria Capaci, Maria Teresa Bonati, Eleonora Lamantea et autres

it, pk, br (code pays fourni par la source)

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review

Paola Michieletto, Francesco Baldo, Maurizio Madonia, Luisa Zupin et autres

it (code pays fourni par la source)

Listening Effort and Its Relation to Spatial Localization, Vestibular and Visual Impairment in Usher Syndrome—Our Experience

Tiziana Di Cesare, Paola Michieletto, Maria Teresa Bonati, Federica De et autres

it (code pays fourni par la source)

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant

Francesco Baldo, Luisa Zupin, Andrea Magnolato, Valeria Capaci et autres

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Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant

Valeria Capaci, Luisa Zupin, Martina Magistrati, Maria Teresa Bonati et autres

it (code pays fourni par la source)

CDK13 ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli et autres

it, de, ch, be, tr, fr, au, us (code pays fourni par la source)

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini et autres

it (code pays fourni par la source)