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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
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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3
A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years
A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years
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A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years

Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Boada, Richard ; van Rijn, Sophie

Child neuropsychology, 2022-02, Vol.28 (2), p.171-196 [Periódico revisado por pares]

England: Routledge

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4
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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5
Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)
Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)
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Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)

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

Journal of autism and developmental disorders, 2023-08, Vol.53 (8), p.3194-3207 [Periódico revisado por pares]

New York: Springer US

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6
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY

Ahlawat, Nivedita ; Elliott, Kathryn ; Ormond, Kelly E. ; Allyse, Megan A. ; Riggan, Kirsten A.

Journal of community genetics, 2024-02, Vol.15 (1), p.75-83 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Gabriele, Tonni ; Gianpaolo, Grisolia

Archives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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8
Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports
Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports
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Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports

Sugawara, Nobuo ; Maeda, Machiko ; Manome, Tomomi ; Nagai, Rie ; Araki, Yasuhisa

Reproductive medicine and biology, 2013-10, Vol.12 (4), p.193-195 [Periódico revisado por pares]

Tokyo: Springer Japan

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9
Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later
Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later
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Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later

Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Stumpel, Constance ; van Rijn, Sophie

Clinical neuropsychologist, 2023-04, Vol.37 (3), p.650-675 [Periódico revisado por pares]

England: Routledge

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10
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
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Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

Lalatta, Faustina ; Quagliarini, Donatella ; Folliero, Emanuela ; Cavallari, Ugo ; Gentilin, Barbara ; Castorina, Pierangela ; Forzano, Francesca ; Forzano, Serena ; Grosso, Enrico ; Viassolo, Valeria ; Naretto, Valeria Giorgia ; Gattone, Stefania ; Ceriani, Florinda ; Faravelli, Francesca ; Gargantini, Luigi

European journal of pediatrics, 2010-10, Vol.169 (10), p.1255-1261 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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