Associated Papers
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Romeo Bertola D et al.
Molecular Syndromology, 2016
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
Hatagami Marques J et al.
Molecular Syndromology, 2015
Stuve-Wiedemann syndrome: is it underrecognized?
Yeşil G et al.
American Journal of Medical Genetics. Part A, 2014
In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
Bellais S et al.
European Journal of Human Genetics : Ejhg, 2010
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N et al.
American Journal of Human Genetics, 2004
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