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Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
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Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome

Sharma, Rohan ; Harris, Valerie M ; Cavett, Joshua ; Kurien, Biji T ; Liu, Ke ; Koelsch, Kristi A ; Fayaaz, Anum ; Chaudhari, Kaustubh S ; Radfar, Lida ; Lewis, David ; Stone, Donald U ; Kaufman, C Erick ; Li, Shibo ; Segal, Barbara ; Wallace, Daniel J ; Weisman, Michael H ; Venuturupalli, Swamy ; Kelly, Jennifer A ; Pons-Estel, Bernardo ; Jonsson, Roland ; Lu, Xianglan ; Gottenberg, Jacques-Eric ; Anaya, Juan-Manuel ; Cunninghame-Graham, Deborah S ; Huang, Andrew J W ; Brennan, Michael T ; Hughes, Pamela ; Alevizos, Ilias ; Miceli-Richard, Corinne ; Keystone, Edward C ; Bykerk, Vivian P ; Hirschfield, Gideon ; Nordmark, Gunnel ; Bucher, Sara Magnusson ; Eriksson, Per ; Omdal, Roald ; Rhodus, Nelson L ; Rischmueller, Maureen ; Rohrer, Michael ; Wahren-Herlenius, Marie ; Witte, Torsten ; Alarcón-Riquelme, Marta ; Mariette, Xavier ; Lessard, Christopher J ; Harley, John B ; Ng, Wan-Fai ; Rasmussen, Astrid ; Sivils, Kathy L ; Scofield, R Hal

Arthritis & rheumatology (Hoboken, N.J.), 2017-11, Vol.69 (11), p.2187-2192 [Periódico revisado por pares]

United States

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2
Integrated Analysis of the Association Between Variants at PAX7 and NSCL/P in the Han Population
Integrated Analysis of the Association Between Variants at PAX7 and NSCL/P in the Han Population
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Integrated Analysis of the Association Between Variants at PAX7 and NSCL/P in the Han Population

Yang, Cheng-Wei ; You, Yue ; Sun, Jia-Lin ; Shi, Bing ; Jia, Zhong-Lin

The Cleft palate-craniofacial journal, 2023-03, p.10556656231163398-10556656231163398 [Periódico revisado por pares]

United States

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3
Mosaic Turner syndrome shows reduced penetrance in an adult population study
Mosaic Turner syndrome shows reduced penetrance in an adult population study
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Mosaic Turner syndrome shows reduced penetrance in an adult population study

Tuke, Marcus A ; Ruth, Katherine S ; Wood, Andrew R ; Beaumont, Robin N ; Tyrrell, Jessica ; Jones, Samuel E ; Yaghootkar, Hanieh ; Turner, Claire L S ; Donohoe, Mollie E ; Brooke, Antonia M ; Collinson, Morag N ; Freathy, Rachel M ; Weedon, Michael N ; Frayling, Timothy M ; Murray, Anna

Genetics in medicine, 2019-04, Vol.21 (4), p.877-886 [Periódico revisado por pares]

United States: Elsevier Limited

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4
Brief Report: Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
Brief Report: Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome
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Brief Report: Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome

Sharma, Rohan ; Harris, Valerie M. ; Cavett, Joshua ; Kurien, Biji T. ; Liu, Ke ; Koelsch, Kristi A. ; Fayaaz, Anum ; Chaudhari, Kaustubh S. ; Radfar, Lida ; Lewis, David ; Stone, Donald U. ; Kaufman, C. Erick ; Li, Shibo ; Segal, Barbara ; Wallace, Daniel J. ; Weisman, Michael H. ; Venuturupalli, Swamy ; Kelly, Jennifer A. ; Pons‐Estel, Bernardo ; Jonsson, Roland ; Lu, Xianglan ; Gottenberg, Jacques‐Eric ; Anaya, Juan‐Manuel ; Cunninghame‐Graham, Deborah S. ; Huang, Andrew J. W. ; Brennan, Michael T. ; Hughes, Pamela ; Alevizos, Ilias ; Miceli‐Richard, Corinne ; Keystone, Edward C. ; Bykerk, Vivian P. ; Hirschfield, Gideon ; Nordmark, Gunnel ; Bucher, Sara Magnusson ; Eriksson, Per ; Omdal, Roald ; Rhodus, Nelson L. ; Rischmueller, Maureen ; Rohrer, Michael ; Wahren‐Herlenius, Marie ; Witte, Torsten ; Alarcón‐Riquelme, Marta ; Mariette, Xavier ; Lessard, Christopher J. ; Harley, John B. ; Ng, Wan‐Fai ; Rasmussen, Astrid ; Sivils, Kathy L. ; Scofield, R. Hal

Arthritis & rheumatology (Hoboken, N.J.), 2017-11, Vol.69 (11), p.2187-2192 [Periódico revisado por pares]

Atlanta: Wiley Subscription Services, Inc

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5
Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage
Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage
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Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

Liu, S. ; Song, L. ; Cram, D. S. ; Xiong, L. ; Wang, K. ; Wu, R. ; Liu, J. ; Deng, K. ; Jia, B. ; Zhong, M. ; Yang, F.

Ultrasound in obstetrics & gynecology, 2015-10, Vol.46 (4), p.472-477 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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6
Genetics of glucocorticoid regulation and posttraumatic stress disorder--What do we know?
Genetics of glucocorticoid regulation and posttraumatic stress disorder--What do we know?
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Genetics of glucocorticoid regulation and posttraumatic stress disorder--What do we know?

Castro-Vale, Ivone ; van Rossum, Elisabeth F C ; Machado, José Carlos ; Mota-Cardoso, Rui ; Carvalho, Davide

Neuroscience and biobehavioral reviews, 2016-04, Vol.63, p.143-157 [Periódico revisado por pares]

United States

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7
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center
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Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center

Wu, Xiaoqing ; Guo, Danhua ; Li, Ying ; Xie, Xiaorui ; Su, Linjuan ; Cai, Meiying ; Zheng, Lin ; Lin, Na ; Liang, Bin ; Huang, Hailong ; Xu, Liangpu

Journal of perinatal medicine, 2023-09, Vol.51 (7), p.904-912 [Periódico revisado por pares]

Germany: De Gruyter

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8
Prevalence of sex-chromosome aneuploidy estimated using SNP genotype intensity information in a large population of juvenile dairy and beef cattle
Prevalence of sex-chromosome aneuploidy estimated using SNP genotype intensity information in a large population of juvenile dairy and beef cattle
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Prevalence of sex-chromosome aneuploidy estimated using SNP genotype intensity information in a large population of juvenile dairy and beef cattle

Ryan, Cliona A ; Purfield, Deirdre C ; Matthews, Daragh ; Canedo-Ribeiro, Carla ; Valldecabres, Ainhoa ; Berry, Donagh P

Journal of animal breeding and genetics (1986), 2024-03 [Periódico revisado por pares]

Germany

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9
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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10
Polygenic risk scores in schizophrenia with clinically significant copy number variants
Polygenic risk scores in schizophrenia with clinically significant copy number variants
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Polygenic risk scores in schizophrenia with clinically significant copy number variants

Taniguchi, Satoru ; Ninomiya, Kohei ; Kushima, Itaru ; Saito, Takeo ; Shimasaki, Ayu ; Sakusabe, Takaya ; Momozawa, Yukihide ; Kubo, Michiaki ; Kamatani, Yoichiro ; Ozaki, Norio ; Ikeda, Masashi ; Iwata, Nakao

Psychiatry and clinical neurosciences, 2020-01, Vol.74 (1), p.35-39 [Periódico revisado por pares]

Melbourne: John Wiley & Sons Australia, Ltd

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