7 results on '"Saugier-Veber, P."'
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2. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
3. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
4. Bickers-Adams phenotype caused by disruptive brain damage
5. Early diagnosis of a recurrence of X-linked hydrocephalus by detection of adductus thumbs in a male fetus at the first trimester of the pregnancy
6. Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method
7. Neurological presentation of a congenital disorder of glycosylation CDG Ia: implications for diagnosis and genetic counseling
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