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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Berglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman
Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman

Takahashi, Tohru

Internal Medicine, 2014, Vol.53(7), pp.783-787 [Periódico revisado por pares]

Japan: The Japanese Society of Internal Medicine

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3
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Sybert, V P

Journal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Preparation and fabrication of a full‐scale, sagittal‐sliced, 3D‐printed, patient‐specific radiotherapy phantom
Preparation and fabrication of a full‐scale, sagittal‐sliced, 3D‐printed, patient‐specific radiotherapy phantom
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Preparation and fabrication of a full‐scale, sagittal‐sliced, 3D‐printed, patient‐specific radiotherapy phantom

Craft, Daniel F. ; Howell, Rebecca M.

Journal of applied clinical medical physics, 2017-09, Vol.18 (5), p.285-292 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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5
Assessment of PlanIQ Feasibility DVH for head and neck treatment planning
Assessment of PlanIQ Feasibility DVH for head and neck treatment planning
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Assessment of PlanIQ Feasibility DVH for head and neck treatment planning

Fried, David V. ; Chera, Bhishamjit S. ; Das, Shiva K.

Journal of applied clinical medical physics, 2017-09, Vol.18 (5), p.245-250 [Periódico revisado por pares]

United States: John Wiley and Sons Inc

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6
Sex-chromosome dosage effects on gene expression in humans
Sex-chromosome dosage effects on gene expression in humans
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Sex-chromosome dosage effects on gene expression in humans

Raznahan, Armin ; Parikshak, Neelroop N. ; Chandran, Vijay ; Blumenthal, Jonathan D. ; Clasen, Liv S. ; Alexander-Bloch, Aaron F. ; Zinn, Andrew R. ; Wangsa, Danny ; Wise, Jasen ; Murphy, Declan G. M. ; Bolton, Patrick F. ; Ried, Thomas ; Ross, Judith ; Giedd, Jay N. ; Geschwind, Daniel H.

Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.7398-7403 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain
Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain
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Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain

Ho, Shiuh-Rong ; Lee, Yu-Ju ; Lin, Weei-Chin

The Journal of biological chemistry, 2015-09, Vol.290 (38), p.23026-23038 [Periódico revisado por pares]

United States: Elsevier Inc

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9
ATS/ERS Statement on respiratory muscle testing
ATS/ERS Statement on respiratory muscle testing
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ATS/ERS Statement on respiratory muscle testing

American Thoracic Society/European Respiratory Society

American journal of respiratory and critical care medicine, 2002-08, Vol.166 (4), p.518-624 [Periódico revisado por pares]

United States

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10
Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex Variants
Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex Variants
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Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex Variants

Mattera, Rafael ; Boehm, Markus ; Chaudhuri, Rittik ; Prabhu, Yogikala ; Bonifacino, Juan S.

The Journal of biological chemistry, 2011-01, Vol.286 (3), p.2022-2030 [Periódico revisado por pares]

United States: Elsevier Inc

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