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1 is-van Creveld syndrome or Weyers acrodental dysostosis.
2 rtebral abnormalities such as spondylocostal dysostosis.
3                        Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by di
4 usly reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontona
5 enotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who
6  diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy
7  including Alagille syndrome, spondylocostal dysostosis, and possibly, osteosarcoma.
8 s exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies.
9    We suggest that EvC and Weyers acrodental dysostosis are allelic conditions.
10          Melorheostosis is a rare sclerosing dysostosis characterized by asymmetric exuberant bone fo
11 yndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft asso
12 mation syndrome that we define as acrofacial dysostosis, Cincinnati type.
13 iously identified as the cause of acrofacial dysostosis, Cincinnati-type.
14 llis-van Creveld syndrome, Weyers acrofacial dysostosis, cranioectodermal dysplasia, and oral-facial-
15 the most common of the human mandibulofacial dysostosis disorders.
16    The craniofacial disorder mandibulofacial dysostosis Guion-Almeida type is caused by haploinsuffic
17 on family with features of Weyers acrofacial dysostosis, in which the proband has a more severe pheno
18                            Weyers acrofacial dysostosis is an autosomal dominant condition with denta
19 raise the possibility that Weyers acrofacial dysostosis is the heterozygous expression of a mutation
20                            Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder
21 gs (i.e., a male with characteristic facies, dysostosis multiplex, and mental retardation) and bioche
22 ate (DS), progressive neurodegeneration, and dysostosis multiplex.
23  human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx
24                            In spondylocostal dysostosis (SD), vertebral-segmentation defects are asso
25                               Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral mals
26                             Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (J
27 ler (Genee-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750).
28 es, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida.
29 use skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for
30 ndividuals with the syndrome mandibulofacial dysostosis with alopecia (MFDA) who have de novo missens
31  is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM).