M.B. Alcausin

Familial Aicardi–Goutières syndrome due to <i>SAMHD1</i> mutations is associated with chronic arthropathy and contractures

Russell C. Dale, Hannah Gornall, Davinder Singh‐Grewal et al. · American Journal of Medical Genetics Part A · 2010 · 83 citations

Life Sciences, Genetics, Molecular Genetics +15

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, M.B. Alcausin et al. · Orphanet Journal of Rare Diseases · 2011 · 63 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +17

The natural history and osteodystrophy of mucolipidosis types II and III

Grace David‐Vizcarra, Julie Briody, J. Ault et al. · Journal of Paediatrics and Child Health · 2010 · 48 citations

Medicine, Endocrinology, Bone Metabolism +16

Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

M.B. Alcausin, Julie Briody, Verity Pacey et al. · Hormone Research in Paediatrics · 2013 · 47 citations

Medicine, Orthopedic Surgery, Bone Metabolism +14