About: THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

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article published in 1969

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 1969 (uk) article published in 1969 (en) im November 1969 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q56171985-9AC9BBED-B463-4E57-A580-1D354A892C89
publication date	1969-11-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q56171985-10BCC62C-8A94-444E-A9A7-CA8D81F9F3C4
language of work or name	English
author name string	wds:Q56171985-3D386157-DD06-414A-A736-D16EC0A89A7F wds:Q56171985-6047AC12-36CB-4DFB-81A0-028C63EDF743 wds:Q56171985-70B09B51-BCF1-4428-86DC-BA2303BD89D4 wds:Q56171985-B27E3BF3-6FA4-4128-9F69-1B2BAE6E7170 wds:Q56171985-FE27502A-0391-4A7D-AEC5-B7AEAB74E528
author name string	JACK LEVIN EDWARD J. OTTENHEIMER JERALD P. KUHN K. A. PETER van BERKUM VICTOR A. McKUSICK
rdfs:label	THROMBOCYTOPENIA WITH ABSENT RADIUS (nl) THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (en)
skos:prefLabel	THROMBOCYTOPENIA WITH ABSENT RADIUS (nl) THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (en)
name	THROMBOCYTOPENIA WITH ABSENT RADIUS (nl) THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (en)
author	wds:Q56171985-670D8057-C35E-4084-9C83-5E2E7267B07F
author	Judith Goslin Hall
title	wds:Q56171985-345EDF45-8DAB-4045-AFDE-48F1B5464839
title	THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (en)
page(s)	wds:Q56171985-FB971242-3FD8-4B93-8BA5-5EE4B28E635D
page(s)	411-440
instance of	wds:Q56171985-C5088562-3091-4197-AA9A-2223731686A8
instance of	scholarly article
main subject	wds:Q56171985-9C6C65FC-0AAA-41B0-AA67-CA63606A4168
main subject	thrombocytopenia
published in	wds:Q56171985-C5A0798A-7B15-4B4C-9B53-C83BDDA7D227
published in	Medicine
issue	wds:Q56171985-CCB6497C-0FA5-42DC-8CFC-7C33CDC6FC1E
volume	wds:Q56171985-14F0EA6E-B4F4-4F4E-951F-3FFC9C883C8C
issue	6
volume	48
DOI	wds:Q56171985-D5F1ACB4-A0E3-4626-80AE-8849DB181582
DOI	http://dx.doi.org/10.1097/00005792-196948060-00001
DOI	10.1097/00005792-196948060-00001
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56171985
is cites work of	Thrombocytopenia in children Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome The pathology of bone marrow failure A randomized, controlled trial of platelet transfusions in thrombocytopenic premature infants Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome Successful treatment with cyclosporin A in a child with acquired pure amegakaryocytic thrombocytopenic purpura Purpura in infants and children Thrombocytopenia absent radius syndrome associated with renal insufficiency Marrow transplantation for thrombocytopenia-absent radii syndrome Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii Eosinophilia in the neonatal intensive care unit Platelet Size and Kinetics in Hereditary and Acquired Thrombocytopenia A female patient with "Aase syndrome". Neonatal isoimmune purpura: Response to platelet infusions Inherited thrombocytopenia: when a low platelet count does not mean ITP Familiarity, recessivity and germline mosaicism Advances in the understanding of congenital amegakaryocytic thrombocytopenia Prevention of heart disease in infants and children Fetal cardiac anomalies and genetic syndromes Multiple childhood osteosarcomas in an american indian family with erythroid macrocytosis and skeletal anomalies Thrombocytopenia with absent radii: frequency of marrow megakaryocyte progenitors, proliferative characteristics, and megakaryocyte growth and development factor responsiveness Eosinophilia in Children Evaluation of eosinophilia in hospitalized preterm infants. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia. Thrombocytopenia with absent radius Skeletal changes in the anemias An index of syndromes and their anaesthetic implications Genetics of SV40 T-antigen expression: Studies of twins, heritable syndromes and cancer families Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome Intrinsic platelet defects in hereditary thrombocytopenia Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome Triphalangeal thumbs and congenital erythroid hypoplasia: Report of a case with unusual features Megakaryocytes and inherited thrombocytopenias Fanconi's anemia in a neonate Congenital failure of hematopoiesis in the newborn infant. Association of Congenital Heart Disease with Syndromes or Other Defects Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case Benign lymphocytosis and reactive neutrophilia. Laboratory features provide diagnostic clues. An unusual cardiomelic syndrome Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery Hemostasis in the Premature Infant Syndrome of Thrombocytopenia and Absent Radii: Qualitatively Normal Platelets with Remission Following Spenectomy Acquired amegakaryocytic thrombocytopaenia in a child Thrombocytopenia in the neonate Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. Congenital defects of the marrow stem cell Anatomical analysis of the developmental effects of aneuploidy in man—the 18-trisomy syndrome: II. Anomalies of the upper and lower limbs Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome A patient with apparent idiopathic A-megakaryocytic thrombocytopenia TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

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