A Baxová

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Lampros A. Mavrogiannis, Ileana Antonopoulou, A Baxová et al. · Nature Genetics · 2001 · 149 citations

Developmental Biology, Bone Morphogenic Protein, Craniofacial Disorder +5

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman et al. · The American Journal of Human Genetics · 2009 · 112 citations · Full text

Impair Endochondral Ossification, Genetics, Pathology +4

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy et al. · Nature Communications · 2015 · 93 citations · Full text

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová et al. · The American Journal of Human Genetics · 2013 · 91 citations · Full text

Genetic Disorder, Medicine, Genetics +4

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

Kateřina Hirschfeldová, Roman Šolc, A Baxová et al. · Gene · 2011 · 49 citations

Mendelian Disorder, Genetic Disorder, Genetics +7