Found: 9
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Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 536, doi. 10.1007/s00439-005-1310-3
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- Publication type:
- Article
Gastkommentar Gendiagnostikgesetz (GenDG) und Patientenversorgung/Law for Genetic Diagnostic-Procedures (GenDG) in Germany: Guest Editorial.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2011, v. 35, n. 5, p. 259, doi. 10.1515/JLM.2011.044
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- Publication type:
- Article
Array-CGH in der Routinediagnostik bei geistiger Entwicklungsstörung.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2008, v. 32, n. 5, p. 298, doi. 10.1515/JLM.2008.048
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- Publication type:
- Article
Array CGH in the routine diagnostic work-up of mental retardation.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2008, v. 32, n. 5, p. 1, doi. 10.1515/JLM.2008.048et
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- Publication type:
- Article
Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1 -Associated Diseases.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 132, doi. 10.3390/genes12020132
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- Publication type:
- Article
A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
- Published in:
- 2010
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- Publication type:
- journal article
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
- Published in:
- 2008
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- Publication type:
- journal article
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
- Published in:
- 2008
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- Publication type:
- journal article
Feeding disorders in ex-prematures: causes--response to therapy--long term outcome.
- Published in:
- 2007
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- Publication type:
- journal article