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Refinado por: Base de dados/Biblioteca: PubMed Central (PMC) remover xxx: xxx remover
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1
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
A case‐control study of brain structure and behavioral characteristics in 47,XXX syndrome
A case‐control study of brain structure and behavioral characteristics in 47,XXX syndrome
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A case‐control study of brain structure and behavioral characteristics in 47,XXX syndrome

Lenroot, R. K. ; Blumenthal, J. D. ; Wallace, G. L. ; Clasen, L. S. ; Lee, N. R. ; Giedd, J. N.

Genes, brain and behavior, 2014-11, Vol.13 (8), p.841-849 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, Yirong

Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferases
Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferases
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Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferases

Wang, Yue-Yue ; Li, Yu-Dong ; Liu, Jian-Bo ; Ran, Xin-Xin ; Guo, Yuan-Yang ; Ren, Ni-Ni ; Chen, Xin ; Jiang, Hui ; Li, Yong-Quan Jeltsch, Albert

PloS one, 2014-07, Vol.9 (7), p.e103031-e103031 [Periódico revisado por pares]

United States: Public Library of Science

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5
Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)
Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)
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Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)

Lee, Nancy Raitano ; Anand, Payal ; Will, Elizabeth ; Adeyemi, Elizabeth I ; Clasen, Liv S ; Blumenthal, Jonathan D ; Giedd, Jay N ; Daunhauer, Lisa A ; Fidler, Deborah J ; Edgin, Jamie O

Frontiers in behavioral neuroscience, 2015-10, Vol.9, p.264-264 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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6
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Pandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.

Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]

Basel: MDPI AG

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7
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Tang, Ruiyi ; Lin, Lin ; Guo, Zaixin ; Hou, Haiyan ; Yu, Qi

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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8
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study

Bouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; van Rijn, Sophie

Journal of neurodevelopmental disorders, 2022-08, Vol.14 (1), p.44-44, Article 44 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
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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10
Differential Expression of VEGF-A^sub xxx^ Isoforms Is Critical for Development of Pulmonary Fibrosis
Differential Expression of VEGF-A^sub xxx^ Isoforms Is Critical for Development of Pulmonary Fibrosis
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Differential Expression of VEGF-A^sub xxx^ Isoforms Is Critical for Development of Pulmonary Fibrosis

Barratt, Shaney L ; Blythe, Thomas ; Jarrett, Caroline ; Ourradi, Khadija ; Shelley-Fraser, Golda ; Day, Michael J ; Qiu, Yan ; Harper, Steve ; Maher, Toby M ; Oltean, Sebastian ; Hames, Thomas J ; Scotton, Chris J ; Welsh, Gavin I ; Bates, David O ; Millar, Ann B

American journal of respiratory and critical care medicine, 2017-08, Vol.196 (4), p.479 [Periódico revisado por pares]

New York: American Thoracic Society

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