11 results on '"Muschke, Petra"'
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2. A 2q24.2 microdeletion containingTANKas novel candidate gene for intellectual disability
3. A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome
4. The heterozygousLMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy
5. Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p,
6. High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)
7. Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
8. Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
9. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
10. Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome
11. Further delineation of Wittwer syndrome and refinement of the mapping region
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