28 results on '"Gérard-Blanluet, M."'
Search Results
2. Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature
3. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever
4. Prenatal forehead edema in 4p- deletion: the ‘Greek warrior helmet’ profile revisited
5. Binder phenotype in mothers affected with autoimmune disorders
6. Cemara : épidémiologie des maladies rares et système d’information
7. De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation
8. P03.38: Prenatal forehead edema in 4p‐ deletion, the “Greek warrior helmet” profile revisited
9. P03.35: Tri-dimensional ultrasonography suggestive of Costello syndrome, with identified PTPN11 mutation
10. Early development of occipital horns in a classical Menkes patient (Am J Med Genet 130A: 211-213)
11. Early development of occipital horns in a classical Menkes patient
12. Binder phenotype in mothers affected with autoimmune disorders.
13. CEMARA an information system for rare diseases.
14. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
15. High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.
16. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
17. Aphallia, lung agenesis and multiple defects of blastogenesis.
18. Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
19. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
20. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
21. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
22. Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
23. Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
24. [X fragile syndrome; how to make a precocious diagnostic].
25. Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
26. Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome.
27. Mosaic trisomy 9 and lobar holoprosencephaly.
28. Mosaic trisomy 15 and hemihypertrophy.
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