Molecular Case Studies container_vr52omacmbd27ilxbmtacnil3a

Cold Spring Harbor Laboratory

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Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features

Siren Berland, Cecilie Fremstad Rustad, Mariann Haavik Lysfjord Bentsen, Embjorg Julianne Wollen, Gitta Turowski, Stefan Johansson, Gunnar Houge, Bjorn Ivar Haukanes
2021 | Molecular Case Studies
doi:10.1101/mcs.a006113   pmcid:PMC8751407  

Parkes Weber Syndrome with Lymphedema Caused by a Somatic KRAS Variant

Whitney Eng, Christopher L Sudduth, Dennis J Konczyk, Patrick J Smits, Amir H Taghinia, Steven J Fishman, Ahmad Alomari, Denise M Adams, Arin K Greene
2021 | Molecular Case Studies
doi:10.1101/mcs.a006118   pmcid:PMC8751413  

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

Natasha Brown, Zimeng Ye, Chloe Stutterd, Sureshni I. Jayasinghe, Amy Schneider, Saul A. Mullen, Simone A. Mandelstam, Michael Hildebrand
2021 | Molecular Case Studies
doi:10.1101/mcs.a006127   pmcid:PMC8751415  

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

Alexios-Fotios Mentis, Dimitrios Vlachakis, Eleni Papakonstantinou, Ioannis Zaggans, George Patrinos, George P. Chrousos, Efthimios Dardiotis
2021 | Molecular Case Studies
doi:10.1101/mcs.a006096   pmcid:PMC8958913  

Intra- and inter-tumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencing

Weitao Lin, Aaron Beasley, Nima Mesbah Ardakani, Elena Denisenko, Leslie Calapre, Matthew Jones, Benjamin A. Wood, Lydia Warburton, Alistair Forrest, Elin Gray
2021 | Molecular Case Studies
doi:10.1101/mcs.a006111   pmcid:PMC8559622  
Known Releases
Preservation Summary [more]
191 preserved and accessble (bright)
0 preserved, inaccessible (dark)
0 no known preservation
Release Types
article-journal 191
ISSN-L?  2373-2873
    Print:  2373-2865
    Electronic:  2373-2873
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Revision: 6981221d-8e22-4796-b8ab-b6f81fd69e74