Suchergebnisse - "Luigina Spaccini"

1

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

von: Valeria Calcaterra

2021, in: Pediatric Reports

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2

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

von: Chiara Mameli

2021, in: International Journal of Environmental Research and Public Health

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3

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

von: Lucia Cococcioni

2018, in: Italian Journal of Pediatrics

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4

Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity

von: Sara Olivotto

2022, in: Epilepsy & Behavior Reports

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5

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly

von: Valeria Calcaterra

2022, in: Case Reports in Pediatrics

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6

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review

von: Luisa Federica Nespoli

2021, in: Pediatric Reports

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7

Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca

von: Chiara Mameli

2021, in: Current Issues in Molecular Biology

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8

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

von: Serena Redaelli

2019, in: International Journal of Molecular Sciences

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9

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

von: Martha Caterina Faraguna

2022, in: Genes

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10

Menkes disease complicated by concurrent ACY1 deficiency: A case report

von: Alessia Mauri

2023, in: Frontiers in Genetics

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11

Pathogenic Variants in

von: Francesca Cogliati

2019, in: International Journal of Molecular Sciences

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12

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

von: Benedetta Cavirani

2024, in: International Journal of Molecular Sciences

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13

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

von: Angela Peron

2023, in: Genetics in Medicine Open

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14

Expanding the Molecular Spectrum of

von: Ilaria Bestetti

2022, in: International Journal of Molecular Sciences

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15

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

von: Andrea Accogli

2021, in: Annals of Clinical and Translational Neurology

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16

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

von: Eleonora Bonaventura

2024, in: Frontiers in Neurology

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