Results 141 to 150 of about 6,877 (203)

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

open access: yesRadiol Case Rep
Khatiwada A   +4 more
europepmc   +1 more source

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

open access: yesSci Prog
Cadena-Ullauri S   +6 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]

open access: yesMol Syndromol, 2021
Enomoto Y   +8 more
europepmc   +1 more source

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

open access: yesJ Family Med Prim Care
Nassar JY   +5 more
europepmc   +1 more source

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

open access: yesOrphanet J Rare Dis
Jiang Z   +13 more
europepmc   +1 more source

Management of obstructive sleep apnea syndrome in children with craniofacial malformation [PDF]

open access: yes, 1999
Berg, S. (Sandra) van den   +2 more
core   +1 more source

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