Results 111 to 120 of about 3,759 (221)

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

, 2015

core   +1 more source

Craniofacial Dysostosis (Crouzon's Syndrome) [PDF]

Proceedings of the Royal Society of Medicine, 1937
openaire   +2 more sources

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

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

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

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

core   +1 more source

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report. [PDF]

BMC Pediatr
Zhu H, Du M, Zhu S, Huang Y, Zeng L, Kuai Y, Xiong F, Pang Y.   +7 more
europepmc   +1 more source

Malformações laríngeas na síndrome de Richieri-Costa-Pereira com obstrução de via aérea Laryngeal malformations in the Richieri Costa and Pereira syndrome with airway obstruction

Brazilian Journal of Otorhinolaryngology, 2011
Patrícia Barcelos Ogando, Fábio Pires, Rita Carolina Pozzer Krummenauer, Marcus Vinícius Martins Collares, José Faibes Lubianca Neto   +4 more
doaj   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

Metopic synostosis [PDF]

, 2012

core   +1 more source