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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomicsA gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumShwachman's syndrome. A review of 21 cases.Cranioectodermal dysplasia (Sensenbrenner's syndrome).Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disordersThe dichotomy of p53 regulation by noncoding RNAs.Cartilage-hair hypoplasia.Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.Ribosomopathies: human disorders of ribosome dysfunction.A genetic study of Hirschsprung disease.Low cancer incidence rates in Ohio Amish.Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasiaThe William Allan Memorial Award Lecture: Genetic nosology: three approaches.Increased mortality in cartilage-hair hypoplasiaCartilage hair hypoplasia: characteristics and orthopaedic manifestationsNovel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.Association of pancreatic insufficiency and chronic neutropenia in childhood.Morphologic studies in the skeletal dysplasias.Alterations in the ribosomal machinery in cancer and hematologic disorders.Orthopaedic aspects of the chondrodystrophies. The dwarf and his orthopaedic problems.Cartilage hair hypoplasiaGenetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Cartilage Hair Hypoplasia: First report from IranViperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.Metaphyseal chondrodysplasia.Heterogeneity of genome rearrangements in rotaviruses isolated from a chronically infected immunodeficient child.Low segregation ratios in autosomal recessive disorders.Cartilage hair hypoplasia.Cytosine arabinoside treatment of varicella-zoster.Chondroectodernal dysplasia in an African child: a case report.Management of Deformities Secondary to Bone Dysplasia.Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
P2860
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P2860
description
1965 nî lūn-bûn
@nan
1965 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1965 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1965年の論文
@ja
1965年論文
@yue
1965年論文
@zh-hant
1965年論文
@zh-hk
1965年論文
@zh-mo
1965年論文
@zh-tw
1965年论文
@wuu
name
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@ast
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@en
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@nl
type
label
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@ast
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@en
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@nl
prefLabel
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@ast
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@en
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@nl
P2093
P1476
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA
@en
P2093
EGELAND JA
ELDRIDGE R
HOSTETLER JA
MCKUSICK VA
RUANGWIT U
P304
P407
P577
1965-05-01T00:00:00Z