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11 May 2020 : Case report

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Unknown etiology, Challenging differential diagnosis, Rare disease

DOI: 10.12659/AJCR.919463

Am J Case Rep 2020; 21:e919463

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09 Aug 2019 : Clinical Research

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome

Yanmei Zeng, Ping Li [...]

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1812 83 13

09 Apr 2017 : Clinical Research

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing

Xiangrong Min, Haiying Fan [...]

DOI: 10.12659/MSM.902823

Med Sci Monit 2017; 23:1719-1724

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06 Nov 2017 : Laboratory Research

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population

Kejia Xu, Bingjun Shi [...]

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Med Sci Monit Basic Res 2017; 23:352-361

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09 Jan 2017 : Case report

Rapid Changes in Circulating Tumor DNA in Serially Sampled Plasma During Treatment of Breast Cancer: A Case Report

Hiroshi Nakagomi, Yosuke Hirotsu [...]

DOI: 10.12659/AJCR.901295

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28 Jul 2016 : Case report

A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

Charles W. Sauer, Krishelle L. Marc-Aurele

DOI: 10.12659/AJCR.898327

Am J Case Rep 2016; 17:544-548

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02 Apr 2015 : Clinical Research

Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

Jing Yuan, Song Li [...]

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Med Sci Monit 2015; 21:964-969

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16 Dec 2015 : Case report

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Elena Oldani, Catherine Garel [...]

DOI: 10.12659/AJCR.895526

Am J Case Rep 2015; 16:882-885

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18 Sep 2015 : Case report

Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report

Marta Navratil, Vlasta Đuranović [...]

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Am J Case Rep 2015; 16:631-636

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03 Nov 2015 : Clinical Research

TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese

Yao-Dong Li, Yu-Tong Ji [...]

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06 Nov 2014 : Research paper

Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups

Guihua Li, Zhenzhong Zhang [...]

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01 Jun 2012

Novel GATA4 mutations in patients with congenital ventricular septal defects

Yi-Qing Yang, Juan Wang [...]

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Med Sci Monit 2012; 18(6): CR344-350

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01 Jul 2008

Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy

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In Press

16 Mar 2024 : Case report  China (mainland)

Castleman Disease Presenting in the Neck: A Report of 3 Cases and a Literature Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.943214  

0:00

16 Mar 2024 : Case report  Bahrain

Early Diagnosis and Successful Empirical Treatment of L1-L2 Spondylodiscitis in a 21-Month-Old Girl: A Case...

Am J Case Rep In Press; DOI: 10.12659/AJCR.943010  

0:00

16 Mar 2024 : Case report  Taiwan

A Rare Autochthonous Case of Hepatic Hydatid Cyst in the Non-Endemic Region of Taiwan

Am J Case Rep In Press; DOI: 10.12659/AJCR.943687  

0:00

17 Mar 2024 : Case report  Japan

Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinu...

Am J Case Rep In Press; DOI: 10.12659/AJCR.943070  

0:00

Most Viewed Current Articles

07 Mar 2024 : Case report  USA

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

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10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923