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Articles (13)

Journals (0)

1-10 of 13 results for chromosomal microduplication

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Select article: Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Open access

Case report

First published 2022-9

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu [...]

Journal of International Medical Research

Select article: 17p13.3 Microduplication,a Potential Novel Genetic Locus for Nonsyndromic Bilateral Cleft Lip and Palate

Retricted access

Case report

First published 2015-5

17p13.3 Microduplication,a Potential Novel Genetic Locus for Nonsyndromic Bilateral Cleft Lip and Palate

Rita M. Ibitoye, Joanna Roberts, Tim Goodacre [...]

The Cleft Palate Craniofacial Journal

Select article: Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2

Open access

Research article

First published 2022-7

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2

Meihua Li, Linlin Liu, Yijun Wu [...]

Journal of International Medical Research

Select article: Novel Association of Odontogenic Myxoma with Constitutional Chromosomal 1q21 Microduplication: Case Report and Review of the Literature

Retricted access

Case report

First published 2016-3

Novel Association of Odontogenic Myxoma with Constitutional Chromosomal 1q21 Microduplication: Case Report and Review of the Literature

Alejandro Best-Rocha, Kalyani Patel, John Hicks [...]

Pediatric and Developmental Pathology

Select article: Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications

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Case report

First published 2021-4

Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications

Lauren K. Salinero, Natasha Shur, Albert K. Oh

The Cleft Palate Craniofacial Journal

Select article: Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

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Research article

First published 2019-7

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

Chunyan Li, Biliang Chen, Jiao Zheng [...]

Reproductive Sciences

Select article: Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication

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Research article

First published 2010-9-2

Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication

Anne Rovelet-Lecrux, Didier Hannequin, Olivier Guillin [...]

Journal of Alzheimer’s Disease

Select article: Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan,China

Open access

Research article

First published 2024-9

Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan,China

Shengfang Qin, Yitong Zhao, Fengqiu Deng [...]

Journal of International Medical Research

Select article: Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies

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Research article

First published 2023-5

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies

Meiying Cai, Chong Guo, Xinrui Wang [...]

Experimental Biology and Medicine

Select article: Case Report

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Research article

First published 2014-12

Case Report

Jules C. Beal

Journal of Child Neurology

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