Results 131 to 140 of about 9,046 (221)

Reply to Shan <i>et al.</i>: Bone-Specific Manifestations of Spondylothoracic Dysostosis in Jarcho-Levin Syndrome. [PDF]

Am J Respir Crit Care Med
De Jesús-Rojas W, Santiago Cornier A.
europepmc   +1 more source

Bone-Specific Manifestations of Spondylothoracic Dysostosis in Jarcho-Levin Syndrome. [PDF]

Am J Respir Crit Care Med
Shan H, Liu P, Wang X.
europepmc   +1 more source

Radiographic assessment of mucopolysaccharidoses: A pictorial review. [PDF]

World J Clin Pediatr
Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS.   +2 more
europepmc   +1 more source

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. [PDF]

Acta Ortop Bras
Matos MA, Lopes PS.
europepmc   +1 more source

Cranio-Cleido-Dysostosis [PDF]

Proceedings of the Royal Society of Medicine, 1929
openaire   +2 more sources

Anesthesia for Cesarean Delivery in a Patient With Spondylocostal Dysostosis: A Case Report. [PDF]

A A Pract
Bellamy J, Pye S.
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

A mutation in gene in an autosomal recessive pycnodysostosis family of Pakistani origin [PDF]

Muhammad Naeem, Sabeen Sheikh, Wasim Ahmad, P Maroteaux, BD Gelb, M Donnarumma, AF Schilling, K Tezuka, P Saftig, DN Cooper, WS Hou, Y Fujita, BD Gelb, PJ Berti   +13 more
core   +1 more source

Viable mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation [PDF]

core   +1 more source