Birth Defects & Child Health
Clinical utility gene card for: Angelman syndrome![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Buiting K, et al. European Journal of Human Genetics2014 Jun 4
Buiting K, et al. European Journal of Human Genetics2014 Jun 4
Genome sequencing identifies major causes of severe intellectual disability![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_tDi6j3k1p9CW3fwK58dJOPh4DhoUIQdEpD6QLKRpbGfeyOoCdYuNJ4Q3hIkmLykwG84cPR6CyxqinRxLL1zVRDPslVF8hxbk6iIx_2XaNoKxQ_Hl9wC8zI=s0-d)
Gilissen C, et al. Nature 2014 Jun 4
Gilissen C, et al. Nature 2014 Jun 4
Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach
Frazier DM, et al. Mol Genet Metab 2014 May
Frazier DM, et al. Mol Genet Metab 2014 May
Sharp rise in rare chromosomal disorders diagnosis rate,
PHG Foundation, Jun 2
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