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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
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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3
Doctors’ experiences of adverse events in secondary care: the professional and personal impact
Doctors’ experiences of adverse events in secondary care: the professional and personal impact
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Doctors’ experiences of adverse events in secondary care: the professional and personal impact

Harrison, Reema ; Lawton, Rebecca ; Stewart, Kevin

Clinical medicine (London, England), 2014-12, Vol.14 (6), p.585-590 [Periódico revisado por pares]

London: Elsevier Ltd

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4
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Lu, Xinran ; Wang, Chaohong ; Sun, Yuxiu ; Tang, Junxiang ; Tong, Keting ; Zhu, Jiansheng

Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

Samango-Sprouse, Carole ; Kırkızlar, Eser ; Hall, Megan P ; Lawson, Patrick ; Demko, Zachary ; Zneimer, Susan M ; Curnow, Kirsten J ; Gross, Susan ; Gropman, Andrea El-Maarri, Osman

PloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Periódico revisado por pares]

United States: Public Library of Science

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6
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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7
Which neurodevelopmental disorders get researched and why?
Which neurodevelopmental disorders get researched and why?
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Which neurodevelopmental disorders get researched and why?

Bishop, Dorothy V M Morty, Rory Edward

PloS one, 2010-11, Vol.5 (11), p.e15112 [Periódico revisado por pares]

United States: Public Library of Science

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8
Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]
Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]
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Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]

Yu, Heguo ; Diao, Hua ; Wang, Chunmei ; Lin, Yan ; Yu, Fudong ; Lu, Hui ; Xu, Wei ; Li, Zheng ; Shi, Huijuan ; Zhao, Shimin ; Zhou, Yuchuan ; Zhang, Yonglian

Molecular & cellular proteomics, 2015-04, Vol.14 (4), p.1009-1023 [Periódico revisado por pares]

United States: Elsevier Inc

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9
A dual-route perspective on brain activation in response to visual words: Evidence for a length by lexicality interaction in the visual word form area (VWFA)
A dual-route perspective on brain activation in response to visual words: Evidence for a length by lexicality interaction in the visual word form area (VWFA)
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A dual-route perspective on brain activation in response to visual words: Evidence for a length by lexicality interaction in the visual word form area (VWFA)

Schurz, Matthias ; Sturm, Denise ; Richlan, Fabio ; Kronbichler, Martin ; Ladurner, Gunther ; Wimmer, Heinz

NeuroImage (Orlando, Fla.), 2010-02, Vol.49 (3), p.2649-2661 [Periódico revisado por pares]

United States: Elsevier Inc

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10
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties

Monkhorst, Kim ; de Hoon, Bas ; Jonkers, Iris ; Mulugeta Achame, Eskeatnaf ; Monkhorst, Wouter ; Hoogerbrugge, Jos ; Rentmeester, Eveline ; Westerhoff, Hans V ; Grosveld, Frank ; Grootegoed, J Anton ; Gribnau, Joost Freitag, Michael

PloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Periódico revisado por pares]

United States: Public Library of Science

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