Results 91 to 100 of about 1,854 (192)

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

Progressive pseudo rheumatoid dysplasia mimicking juvenile idiopathic arthritis [PDF]

Progressive pseudo rheumatoid dysplasia (PPRD) is an autosomal recessive skeletal dysplasia with an underlying mutation in WISP 3gene. Clinical, it is frequently misdiagnosed as juvenile idiopathic arthritis (JIA), particularly the seronegative ...
Gupta, R K, Vajpayee, Shailja
core   +1 more source

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

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

Function (Oxf), 2023
Aziz Q.
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

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

Brachydactyly [PDF]

Samia A Temtamy, Mona S Aglan, SA Temtamy, A Superti-Furga, CM Hall, RM Winter, J Bell, H Drinkwater, H Drinkwater, H Drinkwater, CM Armour, WC Farabee, B Gao, ME McCready, TJ Kirkpatrick, OL Mohr, GB Jones, K Lehmann, KW Kjaer, P Seemann, Y Sugiura, K Hertzog, SM Garn, (NI) Jeanselme, KA Stiles, T Ohzeki, X Zhao, HN Bass, A Cuevas-Sosa, D MacKinder, GC Schwabe, K Lehmann, RJ Galjaard, GC Schwabe, A Castriota-Scanderbeg, M Baraitser, P Debeer, A Polinkovsky, DB Everman, M Sammar, K Lehmann, JK Breitenbecher, AK Poznanski, A Czeizel, KP Hertzog, H Hortling, VA McKusick, P Pitt, K Jensen, F Mollica, D Johnson, AK Ray, GI Sugarman, A Fujimoto, J Kirner, TA Saito, TJ David, S Stickler, JH Roelfsema, SJ Davies, M Gong, M Faiyaz-Ul-Haque   +61 more
core   +1 more source

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

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