Michael B. Bober

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 554 citations · Full text

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch et al. · Nature Genetics · 2011 · 250 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 222 citations · Full text

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Louise S. Bicknell, Sarah Walker, Anna Klingseisen et al. · Nature Genetics · 2011 · 208 citations

Origin Recognition Complex, Meier-gorlin Syndrome, Developmental Biology +8

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving et al. · The Lancet · 2020 · 184 citations

Subcutaneous Vosoritide Therapy, Pediatrics, Multicentre Trial +2