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Your search keyword '"Jacquette, Aurelia"' showing total 25 results

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25 results on '"Jacquette, Aurelia"'

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1. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

2. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

3. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

4. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

5. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

6. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

7. Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1

9. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

12. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

13. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

14. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

15. Finger creases lend a hand in Kabuki syndrome

16. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

17. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

18. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

19. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

20. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

22. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

23. Detecting small Copy Number Variations, smaller than 400 kb, improves the diagnostic yield of CMA in intellectual disability

24. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

25. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

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