Results 41 to 50 of about 311 (84)

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
Yin A, Zhu Q, Chen Y, Wang J.
europepmc   +1 more source

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

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

Choanal atresia: A review of surgical outcomes in a tertiary medical center. [PDF]

World J Otorhinolaryngol Head Neck Surg
Dheyauldeen S, Heimdal K, Osnes T, Akre H, Olsson L.   +4 more
europepmc   +1 more source

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. [PDF]

Orphanet J Rare Dis
Chen Y, Yang R, Chen X, Zhang T, Li C, Ma J.   +5 more
europepmc   +1 more source

Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management. [PDF]

J Family Med Prim Care
Nassar JY, Kefi F, Alhartani MM, Sultan AA, Al-Khatib T, Safdar OY.   +5 more
europepmc   +1 more source

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy. [PDF]

J Neurodev Disord
Beltrán-Corbellini Á, Valls-Carbó A, Toledano R, García-Morales I, Sánchez-Miranda Román I, Gil-Nagel A.   +5 more
europepmc   +1 more source

Genotype-phenotype associations in microtia: a systematic review. [PDF]

Orphanet J Rare Dis
Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi.   +6 more
europepmc   +1 more source

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatr Neurosurg
Buccilli B, Hussein A, Taghlabi KM, Mitchell M, Haddad Santos D, Bertani R, Paiva W, Anghinah R, Faraji AH.   +8 more
europepmc   +1 more source

Addressing the tissue specificity of U5 snRNP spliceosomopathies. [PDF]

Front Cell Dev Biol
Kemal RA, O'Keefe RT.
europepmc   +1 more source