CrossRef Text and Data Mining
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A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016

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NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case Report
. 2022;   Crossref logo
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Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation
International Journal of Immunogenetics. 2011;38(3):233-242   Crossref logo
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NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
Children. 2021;8(2):117   Crossref logo

Blau Syndrome Associated With a CARD15/NOD2 Mutation
American Journal of Ophthalmology. 2006;142(6):1089-1092   Crossref logo
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Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation
Ophthalmology. 2003;110(10):2040-2044   Crossref logo
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Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab
Pediatric Dermatology. 2018;35(3):e180-e183   Crossref logo
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Germline <italic>PALB2</italic>, <italic>ATM</italic> variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
Obstetrics & Gynecology Science. 2020;63(2):205-208   Crossref logo
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A familial case of Blau syndrome caused by a novelNOD2genetic mutation
Korean Journal of Pediatrics. 2016;59(Suppl 1):S5   Crossref logo
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Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family
Frontiers in Pediatrics. 2021;9:   Crossref logo

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a NOG mutation
. 2020;   Crossref logo
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