Results 121 to 130 of about 1,356 (192)

X-linked mandibulofacial dysostosis [PDF]

, 2020
openaire   +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

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

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

Yeast Models for the Craniofacial Disorders Mandibulofacial Dysostosis Guion Almeida Type and Burn McKeown Syndrome [PDF]

, 2016
Tandiono, Moses
core  

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

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

A rare case of unilateral parotid gland agenesis. [PDF]

Radiol Case Rep
Soltani K, Taghdiri M, Keshavarz E, Kanani P.   +3 more
europepmc   +1 more source

Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas [PDF]

Cristina H. F. Ferreira, Débora Gusmão Melo, Leonardo Lima Verona, Lucimara P. Pavarina, Nicholas Godoy Canazza Damian   +4 more
core   +1 more source