20 results on '"Gean, Esther"'
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2. Adults with Sotos syndrome: Review of 21 adults with molecularly confirmedNSD1alterations, including a detailed case report of the oldest person
3. Front Cover
4. Molecular characterization of Spanish patients withMECP2duplication syndrome
5. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
6. Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
7. Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa
8. Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity
9. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
10. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia
11. Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person
12. Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
13. Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
14. Van der Woude Syndrome and Lower Lip Pits Treatment
15. White matter alterations associated with chromosomal disorders
16. White matter alterations associated with chromosomal disorders
17. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
18. A missense mutation (His–Arg) and a silent (Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family.
19. [Diploid/triploid mosaicism: a variable but characteristic phenotype].
20. [Ethical deliberations on genetic testing in children and adolescents].
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