Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: NUP93[original query] |
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Integrative analysis of mutational and transcriptional profiles reveals driver mutations of metastatic breast cancers. Cell discovery 2016 2 16025. Lee Ji-Hyun, Zhao Xing-Ming, Yoon Ina, Lee Jin Young, Kwon Nam Hoon, Wang Yin-Ying, Lee Kyung-Min, Lee Min-Joo, Kim Jisun, Moon Hyeong-Gon, In Yongho, Hao Jin-Kao, Park Kyung-Mii, Noh Dong-Young, Han Wonshik, Kim Sungho |
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. Pediatric nephrology (Berlin, Germany) 2018 Jun . Bezdí?ka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ond?ej, Malina Michal, Šimánková Nad?žda, Pr?hová Št?pánka, Zieg Jak |
Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease. Endocrine 2019 Mar . Shen Chen-Tian, Zhang Guo-Qiang, Qiu Zhong-Ling, Song Hong-Jun, Sun Zhen-Kui, Luo Quan-Yo |
End-stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant. Clinical case reports 2021 11 9 (11): e05111. Acharya Ratna, Upadhyay Kir |
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. International journal of molecular sciences 2022 5 23 (9): . Kaja El?bieta, Lejman Adrian, Sielski Dawid, Sypniewski Mateusz, Gambin Tomasz, Dawidziuk Mateusz, Suchocki Tomasz, Golik Pawe?, Wojtaszewska Marzena, Mroczek Magdalena, St?pie? Maria, Szyda Joanna, Lisiak-Teodorczyk Karolina, Wolbach Filip, Ko?odziejska Daria, Ferdyn Katarzyna, D?browski Maciej, Wo?na Alicja, ?ytkiewicz Marcin, Bodora-Troi?ska Anna, Elikowski Waldemar, Król Zbigniew J, Zaczy?ski Artur, Pawlak Agnieszka, Gil Robert, Wierzba Waldemar, Dobosz Paula, Zawadzka Katarzyna, Zawadzki Pawe?, Sztromwasser Paw |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
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