Found: 13
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Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 10, p. 3691, doi. 10.1007/s00431-022-04574-w
- By:
- Publication type:
- Article
Author reply.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation.
- Published in:
- World Journal of Pediatrics, 2012, v. 8, n. 4, p. 309, doi. 10.1007/s12519-012-0374-0
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- Publication type:
- Article
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205298
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- Publication type:
- Article
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
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- Publication type:
- Article
Molecular analysis of patients with autistic behaviour.
- Published in:
- Annals of General Psychiatry, 2008, v. 7, p. 1, doi. 10.1186/1744-859X-7-S1-S133
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- Publication type:
- Article
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
- Published in:
- 2012
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- Publication type:
- journal article
Tumor development in three patients with Noonan syndrome.
- Published in:
- 2008
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- Publication type:
- journal article
Okamoto syndrome in a girl of Caucasian origin.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 12, p. 950, doi. 10.1111/j.1469-8749.2008.03147.x
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- Publication type:
- Article
The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 249, doi. 10.1111/j.1399-0004.1998.tb02691.x
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- Publication type:
- Article
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02450.x
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- Publication type:
- Article
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD),borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion.
- Published in:
- 2016
- By:
- Publication type:
- Case Study