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Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
- By:
- Publication type:
- Article
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7631, doi. 10.3390/ijms21207631
- By:
- Publication type:
- Article
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 11, p. 6362, doi. 10.1007/s12035-023-03461-1
- By:
- Publication type:
- Article
O056. Migraine as presenting symptom of SLC20A2 gene mutations.
- Published in:
- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A121
- By:
- Publication type:
- Article
SECOND ORDER REGULARITY FOR DEGENERATE NONLINEAR ELLIPTIC EQUATIONS.
- Published in:
- Discrete & Continuous Dynamical Systems: Series A, 2018, v. 38, n. 8, p. 4231, doi. 10.3934/dcds.2018184
- By:
- Publication type:
- Article
MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
- By:
- Publication type:
- Article
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
- By:
- Publication type:
- Article
A mental number line in human newborns.
- Published in:
- Developmental Science, 2019, v. 22, n. 6, p. N.PAG, doi. 10.1111/desc.12801
- By:
- Publication type:
- Article
Visual cues of motion that trigger animacy perception at birth: the case of self-propulsion.
- Published in:
- Developmental Science, 2017, v. 20, n. 4, p. n/a, doi. 10.1111/desc.12394
- By:
- Publication type:
- Article
I like the way you move: how animate motion affects visual attention in early human infancy.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1459550
- By:
- Publication type:
- Article
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00903-7
- By:
- Publication type:
- Article
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 11, p. 5752, doi. 10.3390/ijerph18115752
- By:
- Publication type:
- Article
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene ( CLN5) mutations.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 1, p. 173, doi. 10.1007/s00415-014-7553-y
- By:
- Publication type:
- Article
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.
- Published in:
- 2014
- By:
- Publication type:
- Letter
RNA therapeutics for neurological diseases.
- Published in:
- British Medical Bulletin, 2023, v. 147, n. 1, p. 50, doi. 10.1093/bmb/ldad010
- By:
- Publication type:
- Article
A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 1, p. 93, doi. 10.1111/bjh.16508
- By:
- Publication type:
- Article
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 5, p. 994, doi. 10.1111/bjh.15688
- By:
- Publication type:
- Article
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 9, p. 1, doi. 10.1002/pbc.29132
- By:
- Publication type:
- Article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
- By:
- Publication type:
- Article
Corrigendum: Difference in Visual Social Predispositions Between Newborns at Low- and High-risk for Autism.
- Published in:
- Scientific Reports, 2016, p. 29860, doi. 10.1038/srep29860
- By:
- Publication type:
- Article
Difference in Visual Social Predispositions Between Newborns at Low- and High-risk for Autism.
- Published in:
- Scientific Reports, 2016, p. 26395, doi. 10.1038/srep26395
- By:
- Publication type:
- Article
The interplay between mothers' and children behavioral and psychological factors during COVID-19: an Italian study.
- Published in:
- European Child & Adolescent Psychiatry, 2021, v. 30, n. 9, p. 1401, doi. 10.1007/s00787-020-01631-3
- By:
- Publication type:
- Article
Lamin B1 as a key modulator of the developing and aging brain.
- Published in:
- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1263310
- By:
- Publication type:
- Article
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 5, p. 1177, doi. 10.1007/s10815-022-02471-7
- By:
- Publication type:
- Article
Abnormal visual attention to simple social stimuli in 4-month-old infants at high risk for Autism.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95418-4
- By:
- Publication type:
- Article
Newborns' sensitivity to speed changes as a building block for animacy perception.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79451-3
- By:
- Publication type:
- Article
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-77352-z
- By:
- Publication type:
- Article
Holistic Face Processing in Newborns, 3-Month-Old Infants, and Adults: Evidence From the Composite Face Effect.
- Published in:
- Child Development, 2010, v. 81, n. 6, p. 1894, doi. 10.1111/j.1467-8624.2010.01520.x
- By:
- Publication type:
- Article
X chromosome dosage and presence of <italic>SRY</italic> shape sex-specific differences in DNA methylation at an autosomal region in human cells.
- Published in:
- Biology of Sex Differences, 2018, v. 9, p. 1, doi. 10.1186/s13293-018-0169-7
- By:
- Publication type:
- Article
Sleep and Psychological Difficulties in Italian School-Age Children During COVID-19 Lockdown.
- Published in:
- Journal of Pediatric Psychology, 2021, v. 46, n. 2, p. 153, doi. 10.1093/jpepsy/jsab003
- By:
- Publication type:
- Article
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0159-0
- By:
- Publication type:
- Article
Functional and clinical implications of genetic structure in 1686 Italian exomes.
- Published in:
- Human Mutation, 2021, v. 42, n. 3, p. 272, doi. 10.1002/humu.24156
- By:
- Publication type:
- Article
A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 102, doi. 10.1002/humu.24147
- By:
- Publication type:
- Article
Front Cover, Volume 40, Issue 6.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
- By:
- Publication type:
- Article
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
- By:
- Publication type:
- Article
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 149, doi. 10.1002/humu.22466
- By:
- Publication type:
- Article
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1160, doi. 10.1002/humu.22348
- By:
- Publication type:
- Article
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3143, doi. 10.1093/hmg/ddv065
- By:
- Publication type:
- Article
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2746, doi. 10.1093/hmg/ddv034
- By:
- Publication type:
- Article
Autosomal Dominant Leukodystrophy: Deciphering the new role of astrocytes.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 24
- By:
- Publication type:
- Article
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 82, doi. 10.1002/ajmg.a.63413
- By:
- Publication type:
- Article
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1973, doi. 10.1002/ajmg.a.63223
- By:
- Publication type:
- Article
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB‐related developmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1395, doi. 10.1002/ajmg.a.63138
- By:
- Publication type:
- Article
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157
- By:
- Publication type:
- Article
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 608, doi. 10.1002/ajmg.a.62001
- By:
- Publication type:
- Article
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 306, doi. 10.1002/ajmg.a.61000
- By:
- Publication type:
- Article
Cover Image, Volume 170A, Number 7, July 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
- By:
- Publication type:
- Article
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01660-6
- By:
- Publication type:
- Article