Results 131 to 140 of about 1,362 (197)

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

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

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

Low-Set Ears: A New Marker of Fetal Chromosomal Anomalies. [PDF]

Fetal Diagn Ther
Baldrich-Martin E, Jalencas G, Mazano I, Lesmes-Heredia C, Manresa-Dominguez JM, Iniguez-Cruz M, Ferreres JC, Beltran V, Borrell A.   +8 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

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

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. [PDF]

Eur J Hum Genet
Correa FA, Habibi I, Zhai J, Adamo M, Wang Y, Boizot A, Zouaghi Y, Rauch A, Pekic S, Quinton R, Bonomi M, Cangiano B, Dhillo WS, Fluck CE, Nemeth A, Bouloux PM, Ferrara JM, Pignatelli D, Halász Z, Perdices-Lopez C, Messina A, Niederländer NJ, Santoni F, Acierno JS, Pitteloud N.   +24 more
europepmc   +1 more source

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

[Mandibulofacial dysostosis (Franceschetti syndrome)].

Arquivos brasileiros de oftalmologia, 1966
H, de Mello e Oliveira, N, de Mello e Oliveira   +1 more
openaire   +1 more source