Results 121 to 130 of about 2,017 (144)

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

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
Yin A, Zhu Q, Chen Y, Wang J.
europepmc   +1 more source

Perioperative Airway Management in Treacher Collins Syndrome With Obstructive Sleep Apnea: A Case Report. [PDF]

Am J Case Rep
Jiang Y, Deng Z, Yao B, Liang X, Qin Z.
europepmc   +1 more source

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review. [PDF]

J Craniofac Surg
van Roey VL, Ombashi S, Kaymaz I, van Dooren MF, Goverde A, Wolvius EB, Mathijssen IMJ, Versnel SL.   +7 more
europepmc   +1 more source

Whole-genome sequencing reveals genomic diversity and selection signatures for adaptation in South African Afrikaner and Bonsmara cattle. [PDF]

Front Genet
Alberts D, van Marle-Köster E, Joubert F, Berry DP.   +3 more
europepmc   +1 more source

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

Mandibulofacial Dysostosis

core   +1 more source

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatr Neurosurg
Buccilli B, Hussein A, Taghlabi KM, Mitchell M, Haddad Santos D, Bertani R, Paiva W, Anghinah R, Faraji AH.   +8 more
europepmc   +1 more source

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?†

American Journal of Medical Genetics, Part A, 2010
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.
Roseli M Zechi-Ceide, Maria Leine Guion-Almeida, Maria Rita Santos Passos-Bueno   +2 more
exaly   +2 more sources

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Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider analysis?

European Journal of Medical Genetics, 2022
Byung Yoon Choi, Jung Min Ko, Jong-Hee Chae   +2 more
exaly