Found: 31
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FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3037, doi. 10.1007/s10072-023-06790-0
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- Publication type:
- Article
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0514-z
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- Publication type:
- Article
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2111, doi. 10.1111/j.1528-1167.2012.03649.x
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- Publication type:
- Article
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 15, p. 3621, doi. 10.3390/ijms20153621
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- Publication type:
- Article
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1095, doi. 10.3390/ijms20051095
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- Publication type:
- Article
TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.
- Published in:
- Cerebellum, 2023, v. 22, n. 5, p. 1023, doi. 10.1007/s12311-022-01457-6
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- Publication type:
- Article
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
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- Publication type:
- Article
Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes.
- Published in:
- 2018
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- Publication type:
- journal article
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2022.1072256
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- Publication type:
- Article
Rock around DYRK1A: Ethnic diversity, clinical challenges.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1459, doi. 10.1002/ajmg.a.63140
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- Publication type:
- Article
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3004, doi. 10.1002/ajmg.a.37836
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- Publication type:
- Article
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1352, doi. 10.1002/ajmg.a.37594
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- Publication type:
- Article
Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2316, doi. 10.1002/ajmg.a.36116
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- Publication type:
- Article
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2681, doi. 10.1002/ajmg.a.34248
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- Publication type:
- Article
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 16, p. 8771, doi. 10.3390/ijerph18168771
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- Publication type:
- Article
Fetal Hydrothorax Treated with Pleuro-Amniotic Shunting: Fetal and Maternal Complications and Long-Term Outcomes.
- Published in:
- Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 115, doi. 10.1159/000529334
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- Publication type:
- Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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- Publication type:
- Article
Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene.
- Published in:
- Pediatric Reports, 2021, v. 13, n. 2, p. 210, doi. 10.3390/pediatric13020029
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- Publication type:
- Article
Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review.
- Published in:
- Pediatric Reports, 2021, v. 13, n. 1, p. 104, doi. 10.3390/pediatric13010015
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- Publication type:
- Article
Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes.
- Published in:
- Children, 2024, v. 11, n. 4, p. 502, doi. 10.3390/children11040502
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- Publication type:
- Article
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2004, doi. 10.1002/acn3.51448
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- Publication type:
- Article
Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly.
- Published in:
- 2022
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- Publication type:
- Case Study
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1181015
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- Publication type:
- Article
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0500-2
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- Publication type:
- Article
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 10, p. 1015, doi. 10.1002/pd.4415
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- Publication type:
- Article
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9310
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- Publication type:
- Article
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1077625
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- Publication type:
- Article
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.
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- Genes, 2022, v. 13, n. 3, p. 442, doi. 10.3390/genes13030442
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- Publication type:
- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
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- Publication type:
- Article