Andrea Blumenthal

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu et al. · Nature Genetics · 2013 · 315 citations

Developmental Anomaly, Rare Diseases, Somatic Variant +12

The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF)

Alexander Joeris, Nicolas Lutz, Andrea Blumenthal et al. · Acta Orthopaedica · 2016 · 102 citations · Full text

Bone Disease, Skeletal Trauma, Multifragmentary Fractures +11

Turner syndrome in a mother and daughter: r(X) and fertility

Andrea Blumenthal, Judith Allanson · Clinical Genetics · 1997 · 95 citations

Fertility, Cytogenetics, Genetics +21

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

Vibeke Westphal, Sandra M. Peterson, Marc C. Patterson et al. · Genetics in Medicine · 2001 · 59 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF)

Alexander Joeris, Nicolas Lutz, Andrea Blumenthal et al. · Acta Orthopaedica · 2016 · 45 citations · Full text