Muenke syndrome: An international multicenter natural history study.
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A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.Achondroplasia: Development, pathogenesis, and therapy.Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.Clinical genetics of craniosynostosis.Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
P2860
Muenke syndrome: An international multicenter natural history study.
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2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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name
Muenke syndrome: An international multicenter natural history study.
@en
Muenke syndrome: An international multicenter natural history study.
@nl
type
label
Muenke syndrome: An international multicenter natural history study.
@en
Muenke syndrome: An international multicenter natural history study.
@nl
prefLabel
Muenke syndrome: An international multicenter natural history study.
@en
Muenke syndrome: An international multicenter natural history study.
@nl
P2093
P2860
P356
P1476
Muenke syndrome: An international multicenter natural history study.
@en
P2093
Christos Aravidis
Colin M P Yarnell
Donald W Hadley
Hartmut Collmann
John B Mulliken
Maria J Guillen Sacoto
Nicole Snow
Paul Kruszka
Petra Platte
Samantha E Hall
P2860
P304
P356
10.1002/AJMG.A.37528
P407
P577
2016-01-06T00:00:00Z