Works matching DE "ATAXIA telangiectasia in children"
Results: 30
Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL.
- Published in:
- Bone Marrow Transplantation, 2013, v. 48, n. 5, p. 740, doi. 10.1038/bmt.2012.207
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- Article
Progressive Ataxia in An 11 Year Child - A Case Report.
- Published in:
- 2013
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- Publication type:
- Case Study
The ATM gene and susceptibility to childhood T-cell acute lymphoblastic leukaemia.
- Published in:
- British Journal of Haematology, 1998, v. 103, n. 2, p. 536, doi. 10.1046/j.1365-2141.1998.00993.x
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- Article
Multidisciplinary care of children and young people with ataxia-telangiectasia.
- Published in:
- 2017
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- Publication type:
- journal article
Table of Contents.
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- Developmental Medicine & Child Neurology, 2017, v. 59, n. 7, p. 665, doi. 10.1111/dmcn.13271
- Publication type:
- Article
Challenges in quantifying ataxia in core and comorbid early onset ataxias.
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- Developmental Medicine & Child Neurology, 2017, v. 59, n. 4, p. 350, doi. 10.1111/dmcn.13305
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- Article
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.
- Published in:
- 2016
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- Publication type:
- journal article
Ataxia rating scales are age-dependent in healthy children.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 6, p. 556, doi. 10.1111/dmcn.12369
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- Article
The impact of development on the interpretation of movement disorders rating scales.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 6, p. 511, doi. 10.1111/dmcn.12464
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- Publication type:
- Article
International Conference on the Clinical Science of Ataxia–Telangiectasia, University of Birmingham 14–15 October 2004.
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- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 652, doi. 10.1017/S0012162205001337
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- Article
Cutaneous granuloma with ataxia telangiectasia--a case report and review of literature.
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- Clinical & Experimental Dermatology, 1993, v. 18, n. 5, p. 458, doi. 10.1111/j.1365-2230.1993.tb02251.x
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- Article
A lot like grief.
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- Nursing Standard, 2006, v. 20, n. 25, p. 32
- Publication type:
- Article
Occlusion of Pulmonary Arteriovenous Malformations Using the Amplatzer Vascular Plug/Duct Occluder for a Family With Hereditary Hemorrhagic Telangiectasia.
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- Pediatric Cardiology, 2011, v. 32, n. 8, p. 1260, doi. 10.1007/s00246-011-0073-y
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- Article
CHEMO- AND RADIOSENSITIVITY TESTING IN A PATIENT WITH ATAXIA TELANGIECTASIA AND HODGKIN DISEASE.
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- Pediatric Hematology & Oncology, 2002, v. 19, n. 3, p. 163, doi. 10.1080/088800102753541314
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- Publication type:
- Article
Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
- Published in:
- 2018
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- Publication type:
- Case Study
A Rare Neurocutaneous Syndrome and A Rare Association.
- Published in:
- 2015
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- Publication type:
- Case Study
Vesical varices and telangiectasias in a patient with ataxia telangiectasia.
- Published in:
- 2008
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- Publication type:
- Report
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
- Published in:
- 2006
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- Publication type:
- journal article
Cutaneous Mastocytosis: A Review Focusing on the Pediatric Population.
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- Clinical Pediatrics, 2008, v. 47, n. 8, p. 757, doi. 10.1177/0009922808318344
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- Article
Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.
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- Canadian Journal of Neurological Sciences, 2016, v. 43, n. 6, p. 824, doi. 10.1017/cjn.2016.7
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- Article
Granulomatous skin lesions in a patient with ataxia telangiectasia.
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- British Journal of Dermatology, 1998, v. 139, n. 3, p. 543
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- Publication type:
- Article
Cognitive and speech-language performance in children with ataxia telangiectasia.
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- Developmental Neurorehabilitation, 2011, v. 14, n. 5, p. 315, doi. 10.3109/17518423.2011.603368
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- Publication type:
- Article
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8.
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- Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 63, doi. 10.3343/alm.2018.38.1.63
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- Article
Mucocutaneous leishmaniasis in an 11-year-old girl with ataxia telangectasia - case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Ataxia-Telangiectasia: Case Report of Two Siblings.
- Published in:
- 2014
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- Publication type:
- Case Study
Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment.
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- Pediatric Dermatology, 2014, v. 31, n. 6, p. 703, doi. 10.1111/pde.12411
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- Article
Updated Guide to Information for Families with Inherited Skin Disorders.
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- Pediatric Dermatology, 2001, v. 18, n. 1, p. 77, doi. 10.1046/j.1525-1470.2001.018001077.x
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- Article
From the Editor.
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- Middle East Journal of Family Medicine, 2012, v. 10, n. 1, p. 2
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- Article
Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures.
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- Journal of Child Neurology, 2011, v. 26, n. 3, p. 366, doi. 10.1177/0883073810381529
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- Publication type:
- Article
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2161, doi. 10.1093/brain/awp171
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- Publication type:
- Article