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pro vyhledávání: '"76"'
Autor:
Marta Berra, Martine Cools, Antonio Balsamo, Olaf Hiort, Angela K Lucas-Herald, Rita Bertalan, Zofia Kolesinska
Publikováno v:
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Background The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve the overall care for people aff
Autor:
Verity Pacey, Marie Coussens, Louise Tofts, Craig F Munns, Tracy Tate, Ravi Savarirayan, Tash Pocovi, Penelope J. Ireland
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
BackgroundSkeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify