Results 131 to 140 of about 6,330 (183)

Reconstruction of Zygoma in Total Agenesis in Treacher-Collins Syndrome Using Kerfed Rib Grafts - A Retrospective Study. [PDF]

Ann Maxillofac Surg
Balaji SM, Balaji P.
europepmc   +1 more source

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy [PDF]

, 2016

core   +1 more source

The impact of neck flexion on ventilation and glottic visualisation in a child with Treacher Collins syndrome. [PDF]

Anaesth Rep
Mazandi V, Grosinger L, Ward C, Daly Guris R.   +3 more
europepmc   +1 more source

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing. [PDF]

Int J Mol Sci
Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K.   +6 more
europepmc   +1 more source

A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome. [PDF]

Cureus
Tandon T, Thakral A, Moorthy D, Satani K, Roger K.   +4 more
europepmc   +1 more source

Adults with Treacher Collins Syndrome Share Comparable 3D Upper Airway Dimensions with Nonsyndromic Individuals. [PDF]

Int J Dent
Dos Inocentes RJM, de Almeida Ribeiro A, Marzano-Rodrigues MN, Yatabe-Ioshida MS, Trindade-Suedam IK.   +4 more
europepmc   +1 more source

A novel familial mutation associated with Treacher Collins syndrome: A case report. [PDF]

Biomed Rep, 2020
Papageorgiou E, Papoulidis I, Zavlanos A, Papanikolaou E, Manolakos E, Fidani S.   +5 more
europepmc   +1 more source

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome. [PDF]

BMC Med Genomics
Sun H, Xu X, Chen B, Wang Y, Lyu J, Guo L, Yuan Y, Ren D.   +7 more
europepmc   +1 more source

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome. [PDF]

Mol Genet Genomic Med, 2020
Liu J, Lin P, Pang J, Jia Z, Peng Y, Xi H, Wu L, Li Z, Wang H.   +8 more
europepmc   +1 more source