Results 31 to 40 of about 311 (84)

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. [PDF]

J Med Life, 2021
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM.   +5 more
europepmc   +1 more source

Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]

Genes (Basel), 2021
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.   +3 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes. [PDF]

Ital J Pediatr, 2022
Pascolini G, Calvani M, Grammatico P.
europepmc   +1 more source

Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis. [PDF]

Int Dent J
Chen Y, Feng X, Wu H, Duan Y, Han Y, Yu M.   +5 more
europepmc   +1 more source

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis. [PDF]

Mol Syndromol
Aglamis Senel O, Kilic E.
europepmc   +1 more source

A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]

Indian J Ophthalmol
Premkumar S, Baskaran S, Muralikrishnan N, Sundar SS, Periasamy S, Puthuran GV.   +5 more
europepmc   +1 more source

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens. [PDF]

Biology (Basel)
Behunova J, Rehder H, Dobsak A, Kircher SG, Boer LL, Mueller AA, Patsch JM, Winter E, Oostra RJ, Piehslinger E, Reich KM.   +10 more
europepmc   +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