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GLI SCRITTI SPIRITUALI DI GUARDINI.
- Published in:
- Humanitas, 2019, v. 74, n. 2/3, p. 357
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- Publication type:
- Article
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
La critica di Moltmann al Dio apatico Sviluppo e ripresa in una pubblicazione recente.
- Published in:
- Filosofia e Teologia, 2019, n. 1, p. 45
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- Publication type:
- Article
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 4763, doi. 10.1007/s10803-021-05343-8
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- Publication type:
- Article
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Publication type:
- Article
Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.
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- Genes, 2021, v. 12, n. 7, p. 1075, doi. 10.3390/genes12071075
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- Publication type:
- Article
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 588, doi. 10.3390/genes12040588
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- Publication type:
- Article
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 206, doi. 10.1002/ajmg.c.31502
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- Publication type:
- Article
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 179, doi. 10.1002/ajmg.c.31494
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- Publication type:
- Article
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 222, doi. 10.1002/ajmg.c.31493
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- Publication type:
- Article
Partial Duplication of the PARK2 Gene in a Child With Developmental Delay and her Normal Mother: A Second Report.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 5, p. 485, doi. 10.1002/ajmg.b.32173
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- Publication type:
- Article
Chromatinopathies: A focus on Cornelia de Lange syndrome.
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- Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 1, p. i, doi. 10.1111/cge.13684
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- Publication type:
- Article
Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
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- Familial Cancer, 2018, v. 17, n. 3, p. 317, doi. 10.1007/s10689-017-0020-z
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- Publication type:
- Article
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
- Published in:
- Cell Death Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41420-021-00414-2
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- Publication type:
- Article
CON FRANCHEZZA E VERITÀ A PROPOSITO DEL SINODO DEI VESCOVI SULLA FAMIGLIA.
- Published in:
- Studia Patavina, 2015, v. 62, n. 1, p. 11
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- Publication type:
- Article
IL DIO EUROPEO SECONDO MARÍA ZAMBRANO.
- Published in:
- Humanitas, 2013, v. 68, n. 1/2, p. 195
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- Publication type:
- Article
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z
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- Publication type:
- Article
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature.
- Published in:
- 2018
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- Publication type:
- Case Study
SMC1A epilepsy syndrome: clinical data from a large international cohort.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63577
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- Publication type:
- Article
Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63459
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- Publication type:
- Article
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 823, doi. 10.1002/ajmg.a.63061
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- Publication type:
- Article
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2434, doi. 10.1002/ajmg.a.62857
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- Publication type:
- Article
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1661, doi. 10.1002/ajmg.a.62710
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- Publication type:
- Article
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2094, doi. 10.1002/ajmg.a.61749
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- Publication type:
- Article
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1697, doi. 10.1002/ajmg.a.61625
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- Publication type:
- Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
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- Publication type:
- Article
Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1865, doi. 10.1002/ajmg.a.40372
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- Publication type:
- Article
Thrombocytopenia and Cornelia de Lange Syndrome: Still an Enigma?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 130, doi. 10.1002/ajmg.a.37390
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- Publication type:
- Article
Cervical spine malformation in cornelia de lange syndrome: A report of three patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1520, doi. 10.1002/ajmg.a.36457
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- Publication type:
- Article
Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1825, doi. 10.1002/ajmg.a.35988
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- Publication type:
- Article
A new report of Cornelia de Lange syndrome associated with split hand and feet.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2953, doi. 10.1002/ajmg.a.35623
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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