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Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 7, doi. 10.1186/1750-1172-6-7
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- Publication type:
- Article
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1146, doi. 10.1111/j.1528-1167.2012.03501.x
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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
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
- Published in:
- 2022
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- Publication type:
- journal 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
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32976
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- Publication type:
- Article
Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1586, doi. 10.1002/ajmg.a.63164
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- Publication type:
- Article
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 605, doi. 10.1002/ajmg.a.63054
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- Publication type:
- Article
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 84, doi. 10.1002/ajmg.a.62990
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- Publication type:
- Article
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063
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- Publication type:
- Article
Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36684
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- Publication type:
- Article
Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1666, doi. 10.1002/ajmg.a.35982
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- Publication type:
- Article
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 817, doi. 10.1002/ajmg.a.35655
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- Publication type:
- Article
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 386, doi. 10.1002/ajmg.a.35720
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- Publication type:
- Article
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z
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- Publication type:
- Article
Assessment of copy number variations in 120 patients with Poland syndrome.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0351-x
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- Publication type:
- Article
Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.
- Published in:
- International Journal of Legal Medicine, 2024, v. 138, n. 6, p. 2507, doi. 10.1007/s00414-024-03290-4
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- Publication type:
- Article
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 768, doi. 10.1038/ejhg.2010.1
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- Publication type:
- Article
A long way to syndromic short stature.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01737-3
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- Publication type:
- Article
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01678-x
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- Publication type:
- Article
Congenital midline cervical cleft: Clinical approach to a congenital anterior neck defect.
- Published in:
- Congenital Anomalies, 2015, v. 55, n. 2, p. 112, doi. 10.1111/cga.12086
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- Publication type:
- Article
The spatiotemporal organization of episodic memory and its disruption in a neurodevelopmental disorder.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53823-w
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- Publication type:
- Article
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
- Published in:
- 2022
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- Publication type:
- Case Study
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
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- Publication type:
- Article
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 628, doi. 10.1111/cge.13854
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- Publication type:
- Article
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0806-8
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- Publication type:
- Article
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
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- Journal of the American Heart Association, 2024, v. 13, n. 3, p. 1, doi. 10.1161/JAHA.123.031377
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- Publication type:
- Article
Author Correction: The spatiotemporal organization of episodic memory and its disruption in a neurodevelopmental disorder.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
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- Publication type:
- Article
Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 353, doi. 10.1002/ajmg.a.33819
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- Publication type:
- Article
Partial Trisomy of 7q: Case Report and Literature Review.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 5, p. 572, doi. 10.1177/0883073807309776
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- Publication type:
- Article
Moebius syndrome: clinical features, diagnosis, management and early intervention.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0256-5
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- Publication type:
- Article
Ehlers-Danlos syndrome versus cleidocranial dysplasia.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-49
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- Publication type:
- Article
Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1255, doi. 10.1002/pd.5890
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- Publication type:
- Article
Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.
- Published in:
- 2016
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- Publication type:
- journal article
Prenatal and postnatal findings in five cases of Fryns syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Other
Norman-Roberts syndrome: characterization of the phenotype in early fetal life.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 6, p. 568, doi. 10.1002/pd.1728
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- Publication type:
- Article
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377
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- Publication type:
- Article
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
- Published in:
- 2019
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- Publication type:
- journal article
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 971, doi. 10.3390/genes15080971
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- Publication type:
- Article
Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 335, doi. 10.3390/genes13020335
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- Publication type:
- Article
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1513, doi. 10.3390/genes11121513
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- Publication type:
- Article
CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01341-3
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- Publication type:
- Article
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
- Published in:
- 2018
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- Publication type:
- Case Study
Optical coherence tomography angiography findings in Williams-Beuren syndrome.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 4, p. 1131, doi. 10.1007/s00417-023-06323-7
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- Publication type:
- Article
Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185371
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- Publication type:
- Article