Results 91 to 100 of about 790 (163)

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

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

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

Whole-genome sequencing reveals genomic diversity and selection signatures for adaptation in South African Afrikaner and Bonsmara cattle. [PDF]

Front Genet
Alberts D, van Marle-Köster E, Joubert F, Berry DP.   +3 more
europepmc   +1 more source

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach. [PDF]

J Craniofac Surg
van Roey VL, Ombashi S, Mathijssen IMJ, Munkhammar ÅA, Åsten PM, Bouzariouh A, Célérier C, Dana C, van Dooren M, Faasse M, Fauroux B, Frykholm P, Heinen A, Heliövaara A, Joosten KFM, Kljajic M, Larsson E, Loudon S, Marinac I, Munill Ferrer M, Poldermans H, Stattin EL, Streppel M, Svensson M, Thierry B, Tjoa STH, Topa A, Weissbach E, Wolvius EB, Zafra Vallejo V, Versnel SL.   +30 more
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

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

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

Salt-losing syndrome as a mimicker of the Nephroprotective effect of Gliflozins in Proteinuric nephropathies. [PDF]

Oxf Med Case Reports
Romano G, Nicholas F, Colussi G.
europepmc   +1 more source