Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and DYNC2H1[original query] |
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Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2019 10 40 (6): 874-876. He Yi, Li Yu-Juan, Xu Li-Li, Li Dong-Z |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Padiatrie 2024 1 . Marc-Alexander Oestreich, Fabian Keller, Xenia Bovermann, Dominique Braun, Rike Schiller, Luigi Raio, Christiane Zweier, Carmen Casaulta, Jakob Usemann, André Kidszun, Mircea-Horia Popa-Todirenc |
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- Page last updated:May 06, 2024
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