about
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasiaRibosome biogenesis in skeletal development and the pathogenesis of skeletal disordersDe novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.A case of campomelic dysplasia without sex reversal.Growth charts for children with Ellis-van Creveld syndrome.Testing for osteogenesis imperfecta in cases of suspected non-accidental injuryAchondroplasia is defined by recurrent G380R mutations of FGFR3Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasiaPrediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseasesWhole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfectaOsteochondral diseases and fibrodysplasia ossificans progressivaNew evidence for positive selection helps explain the paternal age effect observed in achondroplasiaFetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findingsPrenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study.Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging.Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach.Concomitant achondroplasia and developmental dysplasia of the hip.Peroxisome biogenesis disorders.The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.
P2860
Q28640044-4204B026-0CC6-4537-958C-8AE441864C85Q33609691-30671E72-3A94-43CF-B88D-A0A45176E905Q33676401-D3DF02DD-5464-4013-AE07-090FE88EC063Q34307296-3B9514EA-8326-45CA-BAE7-E796A02C04BAQ34380582-39481F0E-9BC2-46A3-B44C-53794F00DFDEQ34451855-40EB937E-DA84-4649-BE57-DC0B73924E24Q34496839-6325D9C8-6B76-45CE-90FF-502B5C96F950Q34691777-E05593D1-04CE-47D3-9075-1E7C53B4A04DQ34723178-6232182F-6115-440D-A57F-0FA5F467BE00Q36060880-C0419502-43F1-4682-B3CF-B0AB179AB7ADQ36065648-24584D78-2589-40CC-B427-9D103D465E9FQ36117899-C9C550F3-6975-42DD-ACB0-4C92FF01F98FQ36261015-BB37979A-B729-434C-A411-130966302980Q36284111-F3397A25-690C-40FD-AC0E-05E8A8A6303CQ36337201-780B1B6B-1F23-46C6-88E8-2D76B2FC5024Q37020861-2685AF23-DB36-4712-8ADA-E63540DA0FB3Q37193908-EFC231AA-8F77-46AD-9B9F-F6AF1C5BED20Q37270064-DB1BD251-826B-4996-9113-79465D42C8A3Q37399908-9B6BC784-F8C5-4F1E-9F40-92658F79114DQ37989138-765AA14F-0C71-4F7D-A76C-5BE17E816A9BQ40989489-C5CC9DF9-7355-4320-9CE4-D1F5AD516794Q42239299-8E5C2737-365A-49B1-BA5B-FFCEE29966AEQ47738835-42970A35-8DEE-477F-977B-5EBCD8D48BEBQ48278400-47DA63B3-65AC-42E4-886F-143F07CF1A3AQ49885148-78B0B912-FFA0-4875-9E42-B3136755029EQ52614431-EE40AB53-4E20-410A-A61E-1523957DD1F4Q55129363-292E2200-8350-4500-988B-3A09CCD94AA1Q55209610-F4B075B9-34B3-471C-8042-E3FC91C9E642Q55425084-F1FFF3EA-A3CD-48A9-831E-3896F6636316
P2860
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Birth prevalence rates of skeletal dysplasias.
@en
Birth prevalence rates of skeletal dysplasias.
@nl
type
label
Birth prevalence rates of skeletal dysplasias.
@en
Birth prevalence rates of skeletal dysplasias.
@nl
prefLabel
Birth prevalence rates of skeletal dysplasias.
@en
Birth prevalence rates of skeletal dysplasias.
@nl
P2093
P1433
P1476
Birth prevalence rates of skeletal dysplasias
@en
P2093
P356
10.1111/J.1399-0004.1989.TB02912.X
P577
1989-02-01T00:00:00Z