Results 71 to 80 of about 698 (166)

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

core   +1 more source

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
europepmc   +1 more source

Practical Considerations in Computerized Surgical Planning for Frontofacial Surgery. [PDF]

Semin Plast Surg
Blondin MS, Dunson B, Runyan CM.
europepmc   +1 more source

Cleidocranial Dysplasia: A Rare Case Report.

J Pharm Bioallied Sci, 2023
Dhobley AA, Thombre AV, Ghatage D, Patil RI.   +3 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

Artifacts affecting dual-energy X-ray absorptiometry and bone mineral density measurements: a case report and review of the literature. [PDF]

J Med Case Rep
White K, Shakir MKM, Nguyen C, Hoang TD.
europepmc   +1 more source

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review. [PDF]

Mol Genet Metab Rep
Cappozzo F, Severino M, Gennaro E, Faravelli F, Martinez Popple M, Schiaffino MC, Madeo A, La Rosa A.   +7 more
europepmc   +1 more source

Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report. [PDF]

Surg Neurol Int, 2022
Lee BJ, Villeneuve L, Martin M.
europepmc   +1 more source

Directed pterygomaxillary disjunction versus direct downfracture in Le Fort I osteotomy: application of a fracture quality framework using bilateral ten-point cone-beam computed tomography in a retrospective cohort of 205 patients. [PDF]

Med Oral Patol Oral Cir Bucal
Aragón-Niño Í, Del-Castillo-Pardo-de-Vera JL, Cebrián-Carretero JL, López-Martinez C, Tapia-Salinas B, Zheng C, Navarro-Cuellar C.   +6 more
europepmc   +1 more source