Michael B Bober

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Nick Bishop, José Luis Millán, Matthew Downs, 2012, The New England journal of medicine.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.