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A tumor profile in Patau syndrome (trisomy 13)
A tumor profile in Patau syndrome (trisomy 13)
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A tumor profile in Patau syndrome (trisomy 13)

Satgé, Daniel ; Nishi, Motoi ; Sirvent, Nicolas ; Vekemans, Michel ; Chenard, Marie‐Pierre ; Barnes, Ann

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2088-2096 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities
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Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Matricardi, Sara ; Spalice, Alberto ; Salpietro, Vincenzo ; Di Rosa, Gabriella ; Balistreri, Maria Cristina ; Grosso, Salvatore ; Parisi, Pasquale ; Elia, Maurizio ; Striano, Pasquale ; Accorsi, Patrizia ; Cusmai, Raffaella ; Specchio, Nicola ; Coppola, Giangennaro ; Savasta, Salvatore ; Carotenuto, Marco ; Tozzi, Elisabetta ; Ferrara, Pietro ; Ruggieri, Martino ; Verrotti, Alberto

American journal of medical genetics. Part C, Seminars in medical genetics, 2016-09, Vol.172C (3), p.288-295

United States: Blackwell Publishing Ltd

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3
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention
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Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Tartaglia, Nicole ; Howell, Susan ; Davis, Shanlee ; Kowal, Karen ; Tanda, Tanea ; Brown, Mariah ; Boada, Cristina ; Alston, Amanda ; Crawford, Leah ; Thompson, Talia ; Rijn, Sophie ; Wilson, Rebecca ; Janusz, Jennifer ; Ross, Judith

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.428-443

Hoboken, USA: John Wiley & Sons, Inc

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4
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)
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The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)

Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; Rijn, Sophie

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.444-455

Hoboken, USA: John Wiley & Sons, Inc

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5
A review of trisomy X (47,XXX)
A review of trisomy X (47,XXX)
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A review of trisomy X (47,XXX)

Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, Lennie

Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening
Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening
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Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening

Scott, Fergus ; Smet, Maria‐Elisabeth ; Hardy, Tristan ; Sundercombe, Samantha ; Friedlander, Michael ; Carey, Louise ; Kirk, Edwin ; Li, Biao ; McLennan, Andrew

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1273-1276 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome
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Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome

Chang, Pishan ; Bush, Daniel ; Schorge, Stephanie ; Good, Mark ; Canonica, Tara ; Shing, Nathanael ; Noy, Suzanna ; Wiseman, Frances K. ; Burgess, Neil ; Tybulewicz, Victor L.J. ; Walker, Matthew C. ; Fisher, Elizabeth M.C.

Cell reports (Cambridge), 2020-01, Vol.30 (4), p.1152-1163.e4 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself
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Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

Scheuvens, R. ; Begemann, M. ; Soellner, L. ; Meschede, D. ; Raabe‐Meyer, G. ; Elbracht, M. ; Schubert, R. ; Eggermann, T.

Clinical genetics, 2017-07, Vol.92 (1), p.45-51 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome
Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome
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Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome

Contestabile, Andrea ; Benfenati, Fabio ; Gasparini, Laura

Progress in neurobiology, 2010-05, Vol.91 (1), p.1-22 [Periódico revisado por pares]

England

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10
Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures
Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures
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Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures

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

Archives of clinical neuropsychology, 2024-05, Vol.39 (4), p.482-497 [Periódico revisado por pares]

United States: Oxford University Press

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