Found: 23
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Remittent hyperammonemia in congenital portosystemic shunt.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
- Published in:
- 2011
- By:
- Publication type:
- journal 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
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
Prevalence of beckwith-wiedemann syndrome in North West of Italy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
- By:
- Publication type:
- Article
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2746, doi. 10.1002/ajmg.a.34270
- By:
- Publication type:
- Article
A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 27, doi. 10.1038/ng.497
- By:
- Publication type:
- Article
Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor".
- Published in:
- 2005
- By:
- Publication type:
- Letter
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 958, doi. 10.1038/ng1410
- By:
- Publication type:
- Article
Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer.
- Published in:
- PLoS ONE, 2008, v. 3, n. 3, p. 1, doi. 10.1371/journal.pone.0001849
- By:
- Publication type:
- Article
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 544, doi. 10.1093/hmg/dds465
- By:
- Publication type:
- Article
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419
- By:
- Publication type:
- Article
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
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- Publication type:
- Article
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 5, p. 1464, doi. 10.1093/ndt/gfn681
- By:
- Publication type:
- Article
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 3, p. 254, doi. 10.1093/hmg/ddl448
- By:
- Publication type:
- Article
Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.
- Published in:
- Acta Paediatrica, 2008, v. 97, n. 12, p. 1729, doi. 10.1111/j.1651-2227.2008.01032.x
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- Publication type:
- Article
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 2, p. 108, doi. 10.1111/j.1399-0004.1988.tb03420.x
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- Publication type:
- Article
Interstitial deletion of chromosome 1 (q23-25). Report of a case.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 6, p. 549, doi. 10.1111/j.1399-0004.1984.tb00500.x
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- Publication type:
- Article
Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.
- Published in:
- Clinical Genetics, 1981, v. 19, n. 6, p. 456, doi. 10.1111/j.1399-0004.1981.tb02064.x
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- Publication type:
- Article
Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.
- Published in:
- Clinical Genetics, 1981, v. 19, n. 3, p. 174, doi. 10.1111/j.1399-0004.1981.tb00692.x
- By:
- Publication type:
- Article
Recessive spondylocostal dysostosis: Two new cases.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 3, p. 289, doi. 10.1111/j.1399-0004.1978.tb01183.x
- By:
- Publication type:
- Article