8 results on '"Miny, Peter"'
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2. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
3. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
4. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
5. Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?
6. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
7. The mutation spectrum in RECQL4 diseases
8. Genetic factors in lissencephaly syndromes: a review
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