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- [41] Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosisORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)Wu, Chongjun论文数: 0 引用数: 0 h-index: 0机构: Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaYan, Yixin论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Jiangxi Med Coll, Dept Hematol, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaXiong, Ting论文数: 0 引用数: 0 h-index: 0机构: Jiangxi Prov Childrens Hosp, Dept Endocrine Genet & Metab, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaJiang, Wen论文数: 0 引用数: 0 h-index: 0机构: Wuhan Third Hosp, Wuhan 430000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaXu, Jing论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Jiangxi Med Coll, Dept Hematol, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaRao, Yanfei论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Clin Lab, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaAo, Jianyun论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Clin Lab, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaXu, Chun论文数: 0 引用数: 0 h-index: 0机构: Pingxiang Peoples Hosp, Pingxiang 337000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaLi, Xuehong论文数: 0 引用数: 0 h-index: 0机构: Pingxiang Peoples Hosp, Pingxiang 337000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaQi, Longwang论文数: 0 引用数: 0 h-index: 0机构: Third Peoples Hosp Jingdezhen, Jingdezhen 333000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaZheng, Wenhong论文数: 0 引用数: 0 h-index: 0机构: Third Peoples Hosp Jingdezhen, Jingdezhen 333000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaLi, Wenjin论文数: 0 引用数: 0 h-index: 0机构: Pingxiang Peoples Hosp, Pingxiang 337000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaXu, Zhongjin论文数: 0 引用数: 0 h-index: 0机构: Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaYang, Yu论文数: 0 引用数: 0 h-index: 0机构: Jiangxi Prov Childrens Hosp, Dept Endocrine Genet & Metab, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R ChinaLi, Zhenjiang论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Jiangxi Med Coll, Dept Hematol, Nanchang 330000, Peoples R China Jiangxi Prov Childrens Hosp, Dept Hematol, Nanchang 330000, Peoples R China
- [42] Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literatureMOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (04):Cho, Jun Hee论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaHwang, Soojin论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaKwak, Yoon Hae论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Orthoped Surg, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaYum, Mi-Sun论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Asan Med Ctr, Dept Pediat Neurol, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaSeo, Go Hun论文数: 0 引用数: 0 h-index: 0机构: 3billion Inc, Div Med Genet, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaKoh, June-Young论文数: 0 引用数: 0 h-index: 0机构: Genome Insight Inc, San Diego, CA USA Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaJu, Young Seok论文数: 0 引用数: 0 h-index: 0机构: Genome Insight Inc, San Diego, CA USA Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaYoon, Ji-Hee论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaKang, Minji论文数: 0 引用数: 0 h-index: 0机构: Asan Inst Life Sci, Asan Med Ctr, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaDo, Hyo-Sang论文数: 0 引用数: 0 h-index: 0机构: Asan Inst Life Sci, Asan Med Ctr, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaKim, Soyoung论文数: 0 引用数: 0 h-index: 0机构: Asan Inst Life Sci, Asan Med Ctr, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaKim, Gu-Hwan论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaBae, Hyunwoo论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South KoreaLee, Beom Hee论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea Univ Ulsan, Asan Med Ctr Childrens Hosp, Dept Pediat, Coll Med, 88 Olymp Ro 43 Gil, Seoul 05505, South Korea Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Coll Med, Seoul, South Korea
- [43] Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndromeBMC MEDICAL GENOMICS, 2024, 17 (01)Ren, Rong论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaLiu, Yedan论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 16 Jiangsu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaLiu, Peipei论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 16 Jiangsu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaZhao, Jing论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaHou, Mei论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaLi, Shuo论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Dept Med Genet, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaChen, Zongbo论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 16 Jiangsu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R ChinaYuan, Aiyun论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China Qingdao Univ, Dept Neurorehabil, Affiliated Womens & Childrens Hosp, 6 Tongfu Rd, Qingdao 266000, Shandong, Peoples R China
- [44] CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIARETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2020, 40 (11): : 2240 - 2253Han, Xiaoxu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaWu, Shijing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaLi, Hui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaZhu, Tian论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaWei, Xing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaZhou, Qi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R ChinaSui, Ruifang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Ocular Fundus Dis, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China
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- [48] Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1JOURNAL OF PEDIATRIC GENETICS, 2023, 12 (02) : 135 - 140Lin, Grace论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeWei, Heming论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeLai, Angeline H. M.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Pediat, Genet Serv, Singapore, Singapore SingHlth Duke NUS Paediat Acad Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeTan, Ee-Shien论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Pediat, Genet Serv, Singapore, Singapore SingHlth Duke NUS Paediat Acad Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeLim, Jiin Ying论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Pediat, Genet Serv, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeCham, Breana论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Pediat, Genet Serv, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeLing, Simon论文数: 0 引用数: 0 h-index: 0机构: SingHlth Duke NUS Paediat Acad Programme, Singapore, Singapore KK Womens & Childrens Hosp, Dept Pediat, Neurol Serv, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeJamuar, Saumya S.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Pediat, Genet Serv, Singapore, Singapore SingHlth Duke NUS Paediat Acad Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, SingaporeTan, Ene-Choo论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, Singapore SingHlth Duke NUS Paediat Acad Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, Singapore
- [49] Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian PatientsPEDIATRIC NEUROLOGY, 2014, 50 (02) : 140 - 148Mahmoud, Iman G.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Children Hosp, Dept Neurol, Cairo, Egypt Cairo Univ, Children Hosp, Neurometab Dept, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptMahmoud, Marwa论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Sci Natl Res Ctr, Stem Cell Res Lab, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptRefaat, Miral论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Sci Natl Res Ctr, Stem Cell Res Lab, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptGirgis, Marian论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Children Hosp, Dept Neurol, Cairo, Egypt Cairo Univ, Children Hosp, Neurometab Dept, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptWaked, Nevin论文数: 0 引用数: 0 h-index: 0机构: 6th October Univ, Dept Pediat, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptEl Badawy, Ameera论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Children Hosp, Dept Neurol, Cairo, Egypt Cairo Univ, Children Hosp, Neurometab Dept, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptSelim, Laila论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Children Hosp, Dept Neurol, Cairo, Egypt Cairo Univ, Children Hosp, Neurometab Dept, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptHassan, Sawsan论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Children Hosp, Dept Genet, Cairo, Egypt Cairo Univ, Children Hosp, Dept Metab, Cairo, Egypt Cairo Univ, Children Hosp, Dept Neurol, Cairo, EgyptAleem, Alice K. Abdel论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Sci Natl Res Ctr, Stem Cell Res Lab, Cairo, Egypt Weill Cornell Med Coll Qatar, Neurogenet Lab, Doha, Qatar Weill Cornell Med Coll, Dept Neurol, New York, NY USA Cairo Univ, Children Hosp, Dept Neurol, Cairo, Egypt
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