Results 211 to 220 of about 39,956 (278)

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study. [PDF]

Orphanet J Rare Dis
Fagereng E, Htwe S, McDonald S, Derocher C, Bertoli M, Carter E, Bredahl AM, Blakstvedt T, Wright M, Raggio C, Fredwall S.   +10 more
europepmc   +1 more source

The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia. [PDF]

Prenat Diagn
Rajala K, Toiviainen-Salo S, Mäkitie O, Stefanovic V, Tanner L.   +4 more
europepmc   +1 more source

Outcomes of Lower Extremity Total Joint Arthroplasty in Patients With Skeletal Dysplasia: A Systematic Review. [PDF]

Arthroplast Today
Guirguis P, Fowler L, Ricciardi BF.
europepmc   +1 more source

Fabrication of Hard Tissue Constructs from Induced Pluripotent Stem Cells for Exploring Mechanisms of Hereditary Tooth/Skeletal Dysplasia. [PDF]

Int J Mol Sci
Kondo T, Thaweesapphithak S, Ambo S, Otake K, Ohori-Morita Y, Mori S, Vinaikosol N, Porntaveetus T, Egusa H.   +8 more
europepmc   +1 more source

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review. [PDF]

Indian J Radiol Imaging
S DD, Chandola S, Jain A, Gupta N, Kabra M, Jana M.   +5 more
europepmc   +1 more source

Involvement of kinesins in skeletal dysplasia: a review.

Am J Physiol Cell Physiol
Bouchenafa R, Johnson de Sousa Brito FM, Piróg KA.   +2 more
europepmc   +1 more source

Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report. [PDF]

Medicine (Baltimore)
Nguyen DQ, Can TBN, Vu CD, Tran TAT, Nguyen NL, Nguyen TKL, Nguyen VT, Nguyen TH, Tran THG, Nguyen HH.   +9 more
europepmc   +1 more source

Severe skeletal dysplasia caused by a novel FLNB gene mutation. [PDF]

BMJ Case Rep
Madan I, Jackson F, Sahni S, Figueroa R.
europepmc   +1 more source

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review. [PDF]

J Med Ultrasound
Begam MA, Hasan M, Chedid F, Mirghani H.
europepmc   +1 more source

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia. [PDF]

Genet Med Open
Tise CG, Ashton K, de Hayr L, Lee KD, Patkar OL, Krzesinski E, Bassetti JA, Carter EM, Raggio C, Zankl A, Khanshour AM, Atala KN, Rios JJ, Wise CA, Zhu Y, Zhang F, Roscioli T, Buckley M, Harvey RJ, Dawson PA.   +19 more
europepmc   +1 more source