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Volume 5; Issue 6
Main
Molecular Case Studies
Volume 5; Issue 6
Molecular Case Studies
Volume 5; Issue 6
1
Divergent clonal evolution of a common precursor to mantle cell lymphoma and classic Hodgkin lymphoma
Tashkandi, Hammad
,
Petrova-Drus, Kseniya
,
Batlevi, Connie Lee
,
Arcila, Maria E.
,
Roshal, Mikhail
,
Sen, Filiz
,
Yao, Jinjuan
,
Baik, Jeeyeon
,
Bilger, Ashley
,
Singh, Jessica
,
de Frank, Stephanie
,
Kumar, A
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 9.36 MB
Your tags:
2019
2
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF -mutant pancreatic adenocarcinoma
Wrzeszczynski, Kazimierz O.
,
Rahman, Sadia
,
Frank, Mayu O.
,
Arora, Kanika
,
Shah, Minita
,
Geiger, Heather
,
Felice, Vanessa
,
Manaa, Dina
,
Dikoglu, Esra
,
Khaira, Depinder
,
Chimpiri, A. Rao
,
Michelini, Va
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 2.31 MB
Your tags:
2019
3
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree
Hickey, Scott E.
,
Koboldt, Daniel C.
,
Mosher, Theresa Mihalic
,
Brennan, Patrick
,
Schmalz, Beth A.
,
Crist, Erin
,
McBride, Kim L.
,
Adler, Brent H.
,
White, Peter
,
Wilson, Richard K.
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 1.72 MB
Your tags:
2019
4
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
Ragi, Sara D.
,
Lima de Carvalho, Jose Ronaldo
,
Tanaka, Akemi J.
,
Park, Karen Sophia
,
Mahajan, Vinit B.
,
Maumenee, Irene H.
,
Tsang, Stephen H.
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 2.41 MB
Your tags:
2019
5
Erratum: Data sharing for clinical utility
Bjork, Isabel
,
Peralez, Jennifer
,
Haussler, David
,
Spunt, Sheri L.
,
Morozova Vaske, Olena
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 129 KB
Your tags:
2019
6
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
Zepeda-Mendoza, Cinthya J.
,
Cousin, Margot A.
,
Basu, Shubham
,
Jenkinson, Garrett
,
Oliver, Gavin
,
Pittock, Siobhan T.
,
Baughn, Linda B.
,
Klee, Eric W.
,
Babovic-Vuksanovic, Dusica
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 3.07 MB
Your tags:
2019
7
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radiusâlike phenotypes
Brodie, Seth A.
,
Rodriguez-Aulet, Jean Paul
,
Giri, Neelam
,
Dai, Jieqiong
,
Steinberg, Mia
,
Waterfall, Joshua J.
,
Roberson, David
,
Ballew, Bari J.
,
Zhou, Weiyin
,
Anzick, Sarah L.
,
Jiang, Yuan
,
Wang, Yon
Journal:
Molecular Case Studies
Year:
2019
File:
PDF, 3.12 MB
Your tags:
2019
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