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Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.

• Authors : Li, Xiaohong (AUTHOR); Su, Yu (AUTHOR); Huang, Shasha (AUTHOR)

Subjects: GENETIC techniques; LIGATURE (Surgery); MOLECULAR diagnosis

• Source: Acta Oto-Laryngologica. Jul2019, Vol. 139 Issue 7, p567-575. 9p.

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Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.

• Authors : Renliang Huang; Yinyin Liu; Jing Xu

Subjects: GENETICS of thalassemia; THALASSEMIA diagnosis; PREDICTIVE testsCHINA

• Source: Archives of Pathology & Laboratory Medicine. Jul2024, Vol. 148 Issue 7, p797-804. 8p.

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Education Full Text (H.W. Wilson)

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Education Full Text (H.W. Wilson)

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Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

• Authors : Jiang, Yinmo; Wu, Bingbing; Zhang, Xi

Subjects: IN vitro studies; CHILD psychopathology; RESEARCH funding

• Source: Children; Aug2024, Vol. 11 Issue 8, p897, 12p

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Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study.

• Authors : Chatzigeorgiou, Charikleia; Barrett, Jennifer H; Martin, Javier

Subjects: GIANT cell arteritis diagnosis; BIOPSY; OVERDIAGNOSIS

• Source: Rheumatology; Aug2024, Vol. 63 Issue 8, p2307-2313, 7p

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Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

• Authors : Yang, Cheng-Wei; Yin, Bin; Shi, Jia-Yu

Subjects: MICROBIAL virulence; RESEARCH funding; PLASMIDS

• Source: Cleft Palate Craniofacial Journal; Jul2024, Vol. 61 Issue 7, p1134-1142, 9p

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Education Full Text (H.W. Wilson)

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Education Full Text (H.W. Wilson)

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Using Polygenic Risk Scores to Aid Diagnosis of Patients With Early Inflammatory Arthritis: Results From the Norfolk Arthritis Register.

• Authors : Hum, Ryan M.; Sharma, Seema D.; Stadler, Michael

Subjects: RHEUMATOID arthritis diagnosis; RHEUMATOID arthritis risk factors; GENETICS of rheumatoid arthritisVIRGINIA

• Source: Arthritis & Rheumatology; May2024, Vol. 76 Issue 5, p696-703, 8p

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