Results 111 to 120 of about 9,046 (221)

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome. [PDF]

Genes (Basel)
Silvey S, Lovell S, Butler MG.
europepmc   +1 more source

Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias. [PDF]

Turk Arch Pediatr
Tüysüz B.
europepmc   +1 more source

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel <i>MAN2B1</i> variant. [PDF]

Mol Genet Metab Rep
Al Tai MR, Saadi NW, Alothman MS, Ahmed IA, Arif HS, Abdulwahhab SB.   +5 more
europepmc   +1 more source

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review. [PDF]

J Craniofac Surg
van Roey VL, Ombashi S, Kaymaz I, van Dooren MF, Goverde A, Wolvius EB, Mathijssen IMJ, Versnel SL.   +7 more
europepmc   +1 more source

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

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

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team. [PDF]

Cureus
Monyei MO, Edena ME, Olodiama F, Ekene OA.   +3 more
europepmc   +1 more source

Cardioacrofacial dysplasia 1: a case report and literature review. [PDF]

Transl Pediatr
Liang C, Wang Z, Bai G.
europepmc   +1 more source

Mandibulo-Facial Dysostosis [PDF]

British Journal of Ophthalmology, 1953
openaire   +2 more sources

Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation [PDF]

, 2015

core   +1 more source

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management. [PDF]

Case Rep Dent
Shariati M, Tavassoli-Hojjati S, Hoseini AP, Jadidi H.   +3 more
europepmc   +1 more source