High Performance Liquid Chromatography (HPLC): An Essential Tool for Diagnosis of Compound Heterozygous Form (HbSD) of Hemoglobin-D (HbD) with Hemoglobin-S (HbS) by Bhushan Warpe, Shweta Joshi, Rutvi Thummar

Subjects: “…compound heterozygous hbd-hbs…”
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Axonal Neuropathy, Microcephaly and VRK1 Mutations by J Gordon Millichap, John J Millichap

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A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene by Jinhee Lee, Takuya Iwasaki, Tomoko Kaida, Hideki Chuman, Akiko Yoshimura, Yuji Okamoto, Hiroshi Takashima, Kazunori Miyata

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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series by Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj

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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome by Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan

Subjects: “…compound heterozygous…”
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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gen... by Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen

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Controversy between biopsy and risk in children with proteinuria: is there a paradigm war? by Jingyi Yang, Xiaorong Liu

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A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene by Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye

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Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome by Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren

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Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report by Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura

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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree by Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li

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Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants by Liqun Liu, Liqun Liu, Ruiting Su, Peng Huang, Peng Huang, Xingfang Li, Xingfang Li, Jie Xiong, Jie Xiong, Yangyang Xiao, Yangyang Xiao, Dingan Mao, Dingan Mao, Lingjuan Liu, Lingjuan Liu

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Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma by Shaoqing Yang, Ya Li, Lin Yang, Qingge Guo, Ya You, Bo Lei, Bo Lei

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations by Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

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Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy by Weiran Li, Xiaowei Lu, Jianbo Shu, Yingzi Cai, Dong Li, Chunquan Cai

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Novel Compound Heterozygous Variations in <i>MPDZ</i> Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family by Shuang Zhang, Fangxia Zhang, Juan Wang, Shangying Yang, Yinghua Ren, Xue Rui, Xiaobo Xia, Xunlun Sheng

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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy by Wen-Chao Cao, Qing-Shan Chen, Run Gan, Tao Huang, Xiao-He Yan

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Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report by Hua Li, Hua Yang, Min Li, Li Liang, Haojing Zhu, Anan Chen, Hairong Qian

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Genetic tool used to diagnose achromatopsia: first case report from India by Kumari Pritti, Vineet Mishra, Udhaya Kotecha, Somesh Aggarwal

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