Results 121 to 130 of about 9,046 (221)

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

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 <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 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

Hereditary Craniopubic Dysostosis [PDF]

Proceedings of the Royal Society of Medicine, 1964
openaire   +2 more sources

Novel Splice Variant in the <i>HES7</i> Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Nguyen HM, Lien NTK, Tran TH, Nguyen NL, Nguyen SBT, Bui THC, Tung NV, Thanh LT, Xuan NT, Tran VK, Hoang NH.   +10 more
europepmc   +1 more source

Marked hypoplasia of the distal phalanges in Ellis-Van Creveld syndrome [PDF]

, 2018
Marcelis, Stijn, Mortier, Geert, Vanhoenacker, Filip   +2 more
core   +3 more sources

Cleido-Cranial Dysostosis [PDF]

Proceedings of the Royal Society of Medicine, 1937
openaire   +2 more sources

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review. [PDF]

BMC Pediatr
Liu RY, Dai YL, Zou CC.
europepmc   +1 more source

Pycnodysostosis with unusual findings: a case report [PDF]

, 2009

core   +1 more source