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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover xxx: xxx remover Science Citation Index Expanded (Web of Science) 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
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
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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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
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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6
Triple x syndrome with short stature: case report and literature review
Triple x syndrome with short stature: case report and literature review
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Triple x syndrome with short stature: case report and literature review

Li, Mingyan ; Zou, Chaochun ; Zhao, Zhengyan

Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics, 2012-06, Vol.22 (2), p.269-273 [Periódico revisado por pares]

Iran: Tehran University of Medical Sciences

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7
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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8
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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9
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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10
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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