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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Disease and DLD[original query]
Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004 Nov 131B (1): 60-6.
Brown Abraham M, Gordon Derek, Lee Hsinhwa, Caudy Michael, Hardy John, Haroutunian Vahram, Blass John
Wingless-type MMTV integration site family member 2 (WNT2) gene is associated with resistance to MAP in faecal culture and antibody response in Holstein cattle.
Animal genetics 2015 Apr 46 (2): 122-32.
Pauciullo A, Küpper J, Brandt H, Donat K, Iannuzzi L, Erhardt
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Metabolic brain disease 2018 1 33 (3): 741-751.
Li Xiaomei, Yang Yali, Gao Qing, Gao Min, Lv Yvqiang, Dong Rui, Liu Yi, Zhang Kaihui, Gai Zhongt
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Orphanet journal of rare diseases 2020 11 15 (1): 309.
Margutti Ana Vitoria Barban, Silva Wilson Araújo, Garcia Daniel Fantozzi, de Molfetta Greice Andreotti, Marques Adriana Aparecida, Amorim Tatiana, Prazeres Vânia Mesquita Gadelha, Boy da Silva Raquel Tavares, Miura Irene Kazue, Seda Neto João, Santos Emerson de Santana, Santos Mara Lúcia Schmitz Ferreira, Lourenço Charles Marques, Tonon Tássia, Sperb-Ludwig Fernanda, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Döederlein, Camelo José Sim
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Orphanet journal of rare diseases 2020 10 15 (1): 298.
Pavlu-Pereira Hana, Silva Maria João, Florindo Cristina, Sequeira Sílvia, Ferreira Ana Cristina, Duarte Sofia, Rodrigues Ana Luísa, Janeiro Patrícia, Oliveira Anabela, Gomes Daniel, Bandeira Anabela, Martins Esmeralda, Gomes Roseli, Soares Sérgia, Tavares de Almeida Isabel, Vicente João B, Rivera Isab
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Scientific reports 2021 9 11 (1): 18939.
Fang Xiaohua, Zhu Xiaofan, Feng Yin, Bai Ying, Zhao Xuechao, Liu Ning, Kong Xiangdo
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
The Journal of pediatrics 2021 5 236 124-130.
Hegarty Robert, Gibson Philippa, Sambrotta Melissa, Strautnieks Sandra, Foskett Pierre, Ellard Sian, Baptista Julia, Lillis Suzanne, Bansal Sanjay, Vara Roshni, Dhawan Anil, Grammatikopoulos Tassos, Thompson Richard
Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders.
Antioxidants (Basel, Switzerland) 2021 1 10 (2): .
Piras Ignazio Stefano, Gabriele Stefano, Altieri Laura, Lombardi Federica, Sacco Roberto, Lintas Carla, Manzi Barbara, Curatolo Paolo, Nobile Maria, Rigoletto Catia, Molteni Massimo, Persico Antonio
The signature of cuproptosis-related immune genes predicts the tumor microenvironment and prognosis of prostate adenocarcinoma.
Frontiers in immunology 2023 8 14 1181370.
Kai Yao, Rumeng Zhang, Liang Li, Mingdong Liu, Shiyao Feng, Haixin Yan, Zhihui Zhang, Dongdong X
Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.
Scientific reports 2025 1 15 (1): 367.
Amal Bouzid, Malek Belcadhi, Amal Souissi, Meryam Chelly, Fakher Frikha, Hela Gargouri, Crystel Bonnet, Fida Jebali, Salma Loukil, Christine Petit, Saber Masmoudi, Rifat Hamoudi, Mariem Ben Sa
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