Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: ABCD4[original query] |
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Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics 2011 Feb 12 (1): 41-50. Matsukawa Takashi, Asheuer Muriel, Takahashi Yuji, Goto Jun, Suzuki Yasuyuki, Shimozawa Nobuyuki, Takano Hiroki, Onodera Osamu, Nishizawa Masatoyo, Aubourg Patrick, Tsuji Sho |
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS genetics 2013 Jun 9 (6): e1003530. Grarup Niels, Sulem Patrick, Sandholt Camilla H, Thorleifsson Gudmar, Ahluwalia Tarunveer S, Steinthorsdottir Valgerdur, Bjarnason Helgi, Gudbjartsson Daniel F, Magnusson Olafur T, Sparsø Thomas, Albrechtsen Anders, Kong Augustine, Masson Gisli, Tian Geng, Cao Hongzhi, Nie Chao, Kristiansen Karsten, Husemoen Lise Lotte, Thuesen Betina, Li Yingrui, Nielsen Rasmus, Linneberg Allan, Olafsson Isleifur, Eyjolfsson Gudmundur I, Jørgensen Torben, Wang Jun, Hansen Torben, Thorsteinsdottir Unnur, Stefánsson Kari, Pedersen Ol |
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. Clinical biochemistry 2016 Aug . Devi Akella Radha Rama, Naushad Shaik Mohamm |
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. Journal of human genetics 2019 1 64 (4): 305-312. Liu Yi, Kang Lulu, Li Dongxiao, Jin Ying, Song Jinqing, Li Haixia, Wang Junjuan, Yang Yanli |
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response. International journal of molecular sciences 2020 Dec 21 (24): . Hlavác Viktor, Václavíková Radka, Brynychová Veronika, Koževnikovová Renata, Kopecková Katerina, Vrána David, Gatek Jirí, Soucek Pav |
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant. Clinical and experimental dermatology 2021 12 47 (4): 812-815. Braz S V, Benicio R A, Tonelli G S S S, Báo S N, Moretti P N, Pic-Taylor A, Oliveira S F, Acevedo A C, Costa I M C, Mazzeu J |
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