Found: 26
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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Publication type:
- Article
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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- Publication type:
- Article
Measurement properties of instruments to assess pain in children and adolescents with cancer: a systematic review protocol.
- Published in:
- Systematic Reviews, 2019, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13643-019-0945-4
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- Publication type:
- Article
Do cross-food allergies to propofol exist?
- Published in:
- Anesthesia & Pain Medicine, 2022, v. 17, n. 4, p. 381, doi. 10.17085/apm.22195
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- Publication type:
- Article
Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 19, p. 3858, doi. 10.1093/hmg/ddt241
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- Publication type:
- Article
Self-reported early detection activities for breast cancer in Colombia in 2010: impact of socioeconomic and demographic characteristics.
- Published in:
- Salud Pública de México, 2013, v. 55, n. 4, p. 368, doi. 10.21149/spm.v55i4.7220
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- Publication type:
- Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 197, doi. 10.1038/ng.757
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- Publication type:
- Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
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- Publication type:
- Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- 2008
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- Publication type:
- Correction notice
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
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- Publication type:
- Article
Risk and associated risk factors of hospitalization for specific health problems over time in childhood cancer survivors: a medical record linkage study.
- Published in:
- Cancer Medicine, 2017, v. 6, n. 5, p. 1123, doi. 10.1002/cam4.1057
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- Publication type:
- Article
Reducing pain in children with cancer: Methodology for the development of a clinical practice guideline.
- Published in:
- 2019
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- Publication type:
- journal article
Fertility preservation in children, adolescents, and young adults with cancer: Quality of clinical practice guidelines and variations in recommendations.
- Published in:
- 2016
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- Publication type:
- journal article
Current variations in childhood cancer supportive care in the Netherlands.
- Published in:
- 2016
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- Publication type:
- journal article
Field and laboratory evaluation of a high time resolution x-ray fluorescence instrument for determining the elemental composition of ambient aerosols.
- Published in:
- Atmospheric Measurement Techniques, 2018, v. 11, n. 6, p. 3541, doi. 10.5194/amt-11-3541-2018
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- Publication type:
- Article
Late Cardiac Events after Childhood Cancer: Methodological Aspects of the Pan-European Study PanCareSurFup.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162778
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- Publication type:
- Article
Atmospheric Carbon Dioxide variability at Aigüestortes, Central Pyrenees, Spain.
- Published in:
- Regional Environmental Change, 2019, v. 19, n. 2, p. 313, doi. 10.1007/s10113-018-1443-2
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- Publication type:
- Article
The pericapsular nerve group block, a highly selective blockage for intracapsular hip fractures: A case series.
- Published in:
- Saudi Journal of Anaesthesia, 2024, v. 18, n. 2, p. 305, doi. 10.4103/sja.sja_925_23
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- Publication type:
- Article
Risk and Temporal Changes of Heart Failure Among 5-Year Childhood Cancer Survivors: a DCOG-LATER Study.
- Published in:
- 2019
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- Publication type:
- journal article
Comparative Assessment of Particulate Air Pollution Exposure from Municipal Solid Waste Incinerator Emissions.
- Published in:
- Journal of Environmental & Public Health, 2013, v. 2013, p. 1, doi. 10.1155/2013/560342
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- Publication type:
- Article
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006679
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- Publication type:
- Article
Social outcomes in adult survivors of childhood cancer compared to the general population: linkage of a cohort with population registers.
- Published in:
- 2016
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- Publication type:
- journal article
A low-cost contact system to assess load displacement velocity in a resistance training machine.
- Published in:
- Journal of Sports Science & Medicine, 2011, v. 10, n. 3, p. 472
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- Publication type:
- Article
Field and laboratory evaluation of a high time resolution x-ray fluorescence instrument for determining the elemental composition of ambient aerosols.
- Published in:
- Atmospheric Measurement Techniques Discussions, 2017, p. 1, doi. 10.5194/amt-2017-363
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- Publication type:
- Article
High Hospitalization Rates in Survivors of Childhood Cancer: A Longitudinal Follow-Up Study Using Medical Record Linkage.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159518
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- Publication type:
- Article
Studying Hospitalizations and Mortality in the Netherlands: Feasible and Valid Using Two-Step Medical Record Linkage with Nationwide Registers.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132444
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- Publication type:
- Article