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Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency
Author / Creator:Kohn, Lisa A. ; Long, Joseph D. ; Trope, Edward C. ; Kuo, Caroline Y.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-05, Vol.40 (4), p.658-661
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Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report
Author / Creator:Guo, Shuo ; Zhong, Huiyu ; Zhao, Bi ; Yang, Dan ; Meng, Zirui ; Ying, Binwu ; Wang, Minjin
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-02, Vol.43 (2), p.1435-1439
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A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
Author / Creator:Seyedtaghia, Mohammad Reza ; Jafarzadeh‐Esfehani, Reza ; Hosseini, Seyedmojtaba ; Kobravi, Sepehr ; Hakkaki, Mahdis ; Nilipour, Yalda
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2489-n/a
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Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
Author / Creator:Ge, Ting ; Zhang, Xinyue ; Xiao, Yongmei ; Wang, Yizhong ; Zhang, Ting
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2019-01, Vol.20 (1), p.18-18, Article 18
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Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans
Author / Creator:Zhong, Kaiyin ; Zhu, Gu ; Jing, Xiaoxi ; Hendriks, A. Emile J. ; Drop, Sten L. S. ; Ikram, M. Arfan ; Gordon, Scott ; Zeng, Changqing ; Uitterlinden, Andre G. ; Martin, Nicholas G. ; Liu, Fan ; Kayser, Manfred
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-11, Vol.136 (11-12), p.1407-1417
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α‑thalassemia deletion [‑ SEA (Southeast Asian)] and a compound heterozygote for the Chinese G γ + ( A γδβ) 0 /β CD17 ‑thalassemia mutation: A case report
Author / Creator:Qian, Hou ; Li, Weifeng ; Lin, Xiuhua ; Xu, Ji ; Zhang, Xiaoli ; Zhao, Weihua ; Wu, Yike ; Liu, Wenlan
Publisher:Greece: Spandidos Publications UK Ltd
Journal title:Molecular medicine reports, 2023-06, Vol.27 (6), Article 112
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A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia
Author / Creator:Giri, Subhajit ; Naiya, Tufan ; Roy, Shubhrajit ; Das, Gautami ; Wali, Gurusidheshwar M. ; Das, Shyamal Kumar ; Ray, Kunal ; Ray, Jharna
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2019-06, Vol.68 (2), p.214-220
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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
Author / Creator:Domínguez-Ruiz, María ; García-Martínez, Alberto ; Corral-Juan, Marc ; Pérez-Álvarez, Ángel I. ; Plasencia, Ana M. ; Villamar, Manuela ; Moreno-Pelayo, Miguel A. ; Matilla-Dueñas, Antoni ; Menéndez-González, Manuel ; del Castillo, Ignacio
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2019-08, Vol.17 (1), p.290-290, Article 290
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Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease
Author / Creator:Oh, Seak Hee ; Sung, Young Hoon ; Kim, Inki ; Sim, Chan Kyu ; Lee, Jung Hoon ; Baek, Minkyung ; Pack, Chan-Gi ; Seok, Chaok ; Seo, Eul Ju ; Lee, Myeong Sup ; Kim, Kyung Mo
Publisher:US: Oxford University Press
Journal title:Inflammatory bowel diseases, 2019-02, Vol.25 (3), p.498-509
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Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Author / Creator:Song, Yinsen ; Dong, Zhengping ; Luo, Shuying ; Yang, Junmei ; Lu, Yuebing ; Gao, Bo ; Fan, Tianli
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-01, Vol.21 (1), p.4-4, Article 4
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Responses of β-thalassemia and compound heterozygote of Sickle/βthalassemia of BCL11A Gene Polymorphism in Pakistani Patients
Author / Creator:Soomro, Nayab ; Wahid, Mohsin ; Mehmood, Mehreen ; Danish, Syed Hasan
Publisher:Pakistan: Professional Medical Publications
Journal title:Pakistan journal of medical sciences, 2023-11, Vol.39 (6), p.1788-1792
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Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants
Author / Creator:Chen, Chunyan ; Gao, Jiong ; Lv, Qing ; Xu, Chen ; Xia, Yu ; Du, Ailian
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-10, Vol.14 (1), p.242-242, Article 242
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Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancy
Author / Creator:Dubey, Kalika ; Sharma, Charu ; Shet, Suma ; Shekhar, Shashank
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2023-02, Vol.16 (2), p.e252829
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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Author / Creator:Phetthong, Tim ; Khongkrapan, Arthaporn ; Jinawath, Natini ; Seo, Go-Hun ; Wattanasirichaigoon, Duangrurdee
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-10, Vol.12 (10), p.1583
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CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies
Author / Creator:Zhong, Kaiyin ; Karssen, Lennart C. ; Kayser, Manfred ; Liu, Fan
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2016-04, Vol.17 (1), p.156-156, Article 156
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Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene
Author / Creator:Labella, Beatrice ; Lanzi, Gaetana ; Cotti Piccinelli, Stefano ; Caria, Filomena ; Damioli, Simona ; Risi, Barbara ; Bertella, Enrica ; Poli, Loris ; Padovani, Alessandro ; Filosto, Massimiliano
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2023-08, Vol.13 (8), p.1178
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Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the IACADVL/I Gene
Author / Creator:Labella, Beatrice ; Lanzi, Gaetana ; Cotti Piccinelli, Stefano ; Caria, Filomena ; Damioli, Simona ; Risi, Barbara ; Bertella, Enrica ; Poli, Loris ; Padovani, Alessandro ; Filosto, Massimiliano
Publisher:MDPI AG
Journal title:Brain sciences, 2023-08, Vol.13 (8)
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Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report
Author / Creator:Lv, Hongyan ; Qiao, Baojun ; Fang, Liyuan ; Yang, Lihong ; Wang, Qiuli ; Wu, Sujing ; Ren, Pengshun ; Li, Lianxiang
Publisher:England: BioMed Central
Journal title:Hereditas, 2019-12, Vol.156 (1), p.38-38, Article 38
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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
Author / Creator:Daneshjoo, Omid ; Garshasbi, Masoud
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2018-03, Vol.12 (1), p.68-68, Article 68
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Genetic analysis in a compound heterozygote family with familial hypercholesterolemia
Author / Creator:Wang, Fang ; Fan, Qin ; Tao, Rong ; Gu, Gang ; Zhang, Ruiyan ; Xi, Rui
Publisher:Greece: Spandidos Publications
Journal title:Molecular medicine reports, 2018-06, Vol.17 (6), p.8439-8449
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Showing 1 to 20 of 1,614 results

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Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency

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Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report

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A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases

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Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

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Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans

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α‑thalassemia deletion [‑ SEA (Southeast Asian)] and a compound heterozygote for the Chinese G γ + ( A γδβ) 0 /β CD17 ‑thalassemia mutation: A case report

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A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia

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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

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Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease

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Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

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Responses of β-thalassemia and compound heterozygote of Sickle/βthalassemia of BCL11A Gene Polymorphism in Pakistani Patients

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Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

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Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancy

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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

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CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies

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Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

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Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the IACADVL/I Gene

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Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report

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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

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Genetic analysis in a compound heterozygote family with familial hypercholesterolemia

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