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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 17, 2025. (Total: 235411Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Chiari Malformation Type 3[original query]
Chiari malformation type I: a case-control association study of 58 developmental genes.
PloS one 2013 8 (2): e57241.
Urbizu Aintzane, Toma Claudio, Poca Maria A, Sahuquillo Juan, Cuenca-León Ester, Cormand Bru, Macaya Alfo
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
PloS one 2021 16 (5): e0251289.
Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis
Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations.
Turkish journal of biology = Turk biyoloji dergisi 2020 44 (6): 449-456.
Av?ar Timuçin, Çali? ?eyma, Yilmaz Baran, Dem?rc? Otluo?lu Gülden, Holyavk?n Can, KiliÇ Türk
On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Bone reports 2022 3 16 101181.
Martínez-Gil Núria, Mellibovsky Leonardo, Manzano-López González Demián, Patiño Juan David, Cozar Monica, Rabionet Raquel, Grinberg Daniel, Balcells Susan
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