Results 141 to 150 of about 6,402 (203)

Imaging of Treacher Collins syndrome: A case report. [PDF]

Radiol Case Rep
Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S.   +4 more
europepmc   +1 more source

Multidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report. [PDF]

Cureus
Rein LE, McQuitty A, Nguyen T.
europepmc   +1 more source

Negative Pressure Pulmonary Edema Related to Laryngospasm and Upper Airway Obstruction in a Patient With Treacher Collins Syndrome. [PDF]

Cureus, 2021
Cheng JZ, Wang J.
europepmc   +1 more source

Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management. <i>Genes</i> 2021, <i>12</i>, 1392. [PDF]

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

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]

Sci Prog
Cadena-Ullauri S, Tamayo-Trujillo R, Paz-Cruz E, Guevara-Ramírez P, Ruiz-Pozo VA, Cuenca FA, Zambrano AK.   +6 more
europepmc   +1 more source

Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management. [PDF]

J Family Med Prim Care
Nassar JY, Kefi F, Alhartani MM, Sultan AA, Al-Khatib T, Safdar OY.   +5 more
europepmc   +1 more source

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4. [PDF]

Mol Syndromol, 2021
Enomoto Y, Tsurusaki Y, Tominaga M, Kobayashi S, Inoue M, Fujita K, Kumaki T, Murakami H, Kurosawa K.   +8 more
europepmc   +1 more source

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption. [PDF]

Orphanet J Rare Dis
Jiang Z, Mao K, Wang B, Zhu H, Liu J, Lang R, Xiao B, Shan H, Chen Q, Li Y, Zhao S, Zhang Q, Liu H, Zhang YB.   +13 more
europepmc   +1 more source

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