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Your search keyword '"Peippo, Maarit"' showing total 32 results

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32 results on '"Peippo, Maarit"'

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1. Clinical and genetic characteristics of late-onset Huntington's disease

2. Infantile spasms is associated with deletion of the MAG12 gene on chromosome 7q11.23-q21.11

3. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

4. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

9. 9q22 Deletion - First Familial Case

10. The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

12. X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

13. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

15. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

16. 9q22 Deletion - First Familial Case

18. Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

20. Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

21. Response

23. Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

30. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly

32. Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

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