13 results on '"Blanchet, Patricia"'
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2. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
3. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
4. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
5. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
6. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
7. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
8. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
9. A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
10. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
11. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
12. Molecular epidemiology of DFNB1 deafness in France
13. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
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