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15 results on '"Cueto-González, Anna Maria"'

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1. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

2. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

3. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

4. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

5. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations

6. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

7. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148mutations

8. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

9. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

10. Natural history of KBG syndrome in a large European cohort

11. Natural history of KBG syndrome in a large European cohort

12. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

13. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

14. Natural history of KBG syndrome in a large European cohort

15. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

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