医学
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15 篇有效样本 · 按发表日期由新到旧排列
审稿天数=录用日期-收稿日期;保留 PDF/DOI/网页源链接
Compound Heterozygosity for Hb Port Phillip and the –α 3.7 Deletion Leads to Persistent Hypoxemia in a Chinese Pediatric Family
作者Hualei Luo; Zhenmin Ren; Yuhua Ye; Tao Wu; Xiaoying Fu; Nan Cheng; Jiehua Chen; Yunsheng Chen
作者单位1. Department of Laboratory, Shenzhen Children’s Hospital; 2. Shenzhen Children’s Hospital Center for Rare Diseases; 3. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University; 4. Department of Respiratory, Shenzhen Children’s Hospital
Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA 2 Levels
作者Ying Zhao; Jiwu Lou; Youqing Fu; Yunshi Dai; Wanling Ye; Fuxiao Liang; Tizhen Yan
作者单位1. Prenatal Diagnosis Center, Dongguan Maternal and Child Health Care Hospital; 2. Institute of Reproduction and Genetics, Dongguan Maternal and Child Health Care Hospital
A Novel Hemoglobin Variant, Hb Hefei [CD113(GTG > GGG)(Val > Gly); HBB :c.341T > G], Was Detected by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry
作者Yueying Huang; Rui Ji; Weijie Xie; Xiaolian Yang; Huijun Yang; Ling Ji; Anping Xu
作者单位1. Department of Laboratory Medicine, Peking University Shenzhen Hospital; 2. Department of Stomatology, Peking University Shenzhen Hospital
Expression Differences of Abnormal Hemoglobin New York in Infants, Children and Adults, and Analysis of Clinical Phenotypes and Genotypes in Combination with Thalassemia
作者Guang-Kuan Zeng; Yun-Hong Yao; Li-Ye Yang; Yi-Yuan Ge
作者单位1. School of Basic Medical Sciences, Guangdong Medical University; 2. Precision Medical Lab Center, People’s Hospital of Yangjiang affiliated to Guangdong Medical University; 3. Research Unit, Guangdong Hybribio Limited Corporation
Molecular Epidemiology of δβ-Thalassemia and Hereditary Persistence of Fetal Hemoglobin (HPFH) in the Quanzhou Childbearing-Age Population, China
作者Qianmei Zhuang; Xiaolong Liu; Meizhen Yan; Chunqiang Liu; Geng Wang; Yuying Jiang
作者单位1. Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital; 2. Department of Gastroenterology, Quanzhou Women’s and Children’s Hospital
Hb F-SickKids ( HBG2 : C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis
作者Landry E. Nfonsam; Meredith Hanna; Lisa Nakamura; Lynda Walker; Barry Eng; Michelle Fantauzzi; Manuel D. Carcao; John S. Waye
作者单位1. Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences; 2. Department of Pathology and Molecular Medicine, McMaster University; 3. Department of Nursing, The Hospital for Sick Children; 4. Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children
Compound Heterozygous Hemoglobin Minneapolis-Laos and Codon 41/42 (-TTCT) in a Thai Female Adult: A Case Report and Literature Review
作者Sitanun Preechathaveekid; Tarinee Rungjirajittranon; Nuttiruetai Chanpo; Boonyanuch Dujjawan; Chattree Hantaweepant
作者单位1. Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
Genotypic Characterization of Hemoglobinopathies in Azerbaijan: A Review of 10 Years at a Referral Center
作者Agharza Aghayev; Khuraman Jafarova; Zenfira Mirzeyeva; Seher Ismayilova; Tahira Mammadova; Valeh Huseynov; Zehra Oya Uyguner
作者单位1. Department of Genetics, Institute of Health Sciences, Istanbul University; 2. Department of Medical Genetics, Thalassemia Unit, National Hematology and Transfusiology Center; 3. Department of Medical Genetics, Istanbul University
Successful Management of Transfusion-Dependent Unstable Hemoglobin Perth with Splenectomy: First Report from Iran and Literature Review
作者Samin Alavi; Hossein Najmabadi; Mehdi Sarafi; Asghar Ramyar
作者单位1. Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences; 2. Department of Genetics, University of Social Welfare and Rehabilitation Sciences; 3. Pediatric Surgery Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences; 4. Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences
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