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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
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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
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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
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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
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
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The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

Tartaglia, Nicole ; Howell, Susan ; Wilson, Rebecca ; Janusz, Jennifer ; Boada, Richard ; Martin, Sydney ; Frazier, Jacqueline B ; Pfeiffer, Michelle ; Regan, Karen ; McSwegin, Sarah ; Zeitler, Philip

Journal of multidisciplinary healthcare, 2015, Vol.8 (default), p.323-334 [Periódico revisado por pares]

New Zealand: Dove Medical Press Limited

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5
The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populations
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The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populations

Rossi, M S ; Barrio, E ; Latorre, A ; Quezada-Díaz, J E ; Hasson, E ; Moya, A ; Fontdevila, A

Molecular biology and evolution, 1996-02, Vol.13 (2), p.314-323 [Periódico revisado por pares]

United States

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6
Relationship between surgical time and postoperative complications in senile patients with hip fractures
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Relationship between surgical time and postoperative complications in senile patients with hip fractures

马韧石 谷贵山 王成学 朱东 张西正

Chinese journal of traumatology, 2010-06, Vol.13 (3), p.167-172 [Periódico revisado por pares]

China: Elsevier B.V

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7
Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape Province
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Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape Province

Horak, I.G ; Boomker, J ; Spickett, A.M ; De Vos, V

Onderstepoort journal of veterinary research, 1992, Vol.59 (4), p.259-273 [Periódico revisado por pares]

South Africa

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8
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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9
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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10
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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