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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover xxx: xxx remover
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Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network
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Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network

Huang, Sarah D. ; Bamba, Vaneeta ; Bothwell, Samantha ; Fechner, Patricia Y. ; Furniss, Anna ; Ikomi, Chijioke ; Nahata, Leena ; Nokoff, Natalie J. ; Pyle, Laura ; Seyoum, Helina ; Davis, Shanlee M.

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63495-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence
Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence
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Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence

Hanson, Claire ; Blumenthal, Jonathan ; Clasen, Liv ; Guma, Elisa ; Raznahan, Armin

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.150-159 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
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Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

Martin‐Giacalone, Bailey A. ; Lin, Angela E. ; Rasmussen, Sonja A. ; Kirby, Russell S. ; Nestoridi, Eirini ; Liberman, Rebecca F. ; Agopian, A. J. ; Carey, John C. ; Cragan, Janet D. ; Forestieri, Nina ; Leedom, Vinita ; Boyce, Aubree ; Nembhard, Wendy N. ; Piccardi, Monika ; Sandidge, Theresa ; Shan, Xiaoyi ; Shumate, Charles J. ; Stallings, Erin B. ; Stevenson, Roger ; Lupo, Philip J.

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1339-1349 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome
Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome
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Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome

Kremen, Jessica ; Davis, Shanlee M. ; Nahata, Leena ; Kapa, Hillary M. ; Dattilo, Taylor M. ; Liu, Enju ; Hutaff‐Lee, Christa ; Tishelman, Amy C. ; Crerand, Canice E.

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.962-976 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Co‐occurring anomalies in congenital oral clefts
Co‐occurring anomalies in congenital oral clefts
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Co‐occurring anomalies in congenital oral clefts

Stoll, Claude ; Alembik, Yves ; Roth, Marie‐Paule

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1700-1715 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies
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Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

Chen, Yisheng ; Lu, Loukaiyi ; Zhang, Ying ; Wang, Feifei ; Ni, Yinghua ; Wang, Qiang ; Ying, Chunmei

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1426-1434 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature
High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature
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High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature

Viana, Melissa Machado ; Vianna, Gabrielle Sousa ; Carvalho, Elen Rose Fontoura ; Costa, Helena Beatriz Belo Lisboa Martins ; Aguiar, Marcos José Burle

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.953-958 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children
Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children
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Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children

Kuiper, Kimberly ; Swaab, Hanna ; Tartaglia, Nicole ; Rijn, Sophie

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3664-3674 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Age at and indication for diagnosis of Turner syndrome in the pediatric population
Age at and indication for diagnosis of Turner syndrome in the pediatric population
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Age at and indication for diagnosis of Turner syndrome in the pediatric population

Swauger, Sarah ; Backeljauw, Philippe ; Hornung, Lindsey ; Shafer, Jessica ; Casnellie, Lori ; Gutmark‐Little, Iris

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3411-3417 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned
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The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned

Quinonez, Shane C. ; Terefework, Zewdu

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2995-3004 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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