Results 91 to 100 of about 1,547 (171)

New surgical techniques and social media in orthopaedics. Is a scientific peer-reviewed journal assimilated to a social media platform? [PDF]

Int Orthop, 2023
Scarlat MM, Mavrogenis A, Hernigou P, Waddell JP.   +3 more
europepmc   +1 more source

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source

Am J Hum Genet

, 2003
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, U., Mundlos, S.
core  

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report. [PDF]

Medicine (Baltimore)
Lin S, Chen Q, Qi Y, Sun X, Wang W, Jiang K, Zhou X.   +6 more
europepmc   +1 more source

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. [PDF]

Cell Rep Methods
Petrazzini BO, Balick DJ, Forrest IS, Cho J, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Molecular genetics of too much bone

, 2002
Bone remodelling is an important process both throughout growth and in adult life. The homeostasis of bone tissue is maintained by the balanced processes of bone resorption and formation.
Janssens, Katrien, Wim Van Hul, Van Hul, Wim, Katrien Janssens   +3 more
core  

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant. [PDF]

Calcif Tissue Int
Juul TM, Thomsen LK, Andreasen CM, Ejersted C, Folkestad L, Brusgaard K, Hansen S, Thomsen JS, Andersen TL, Frederiksen AL.   +9 more
europepmc   +1 more source

Overactive ATP-Sensitive K⁺ Channels Compromise Lymphatic Contractile Function in Cantú Syndrome. [PDF]

Function (Oxf), 2023
Aziz Q.
europepmc   +1 more source

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia. [PDF]

Front Immunol
Liu P, Tian X, Ding D, Wang L, Wang P.
europepmc   +1 more source

Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital. [PDF]

Cureus
Manzoor U, Saad M, Ali S, Bano S, Shahzad U, Zain M.   +5 more
europepmc   +1 more source