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Volume 6; Issue 1
Main
Molecular Case Studies
Volume 6; Issue 1
Molecular Case Studies
Volume 6; Issue 1
1
Undifferentiated small round cell sarcoma in a young male: a case report
Ricker, Cora A.
,
Berlow, Noah E.
,
Crawford, Kenneth A.
,
Georgopapadakos, Todd
,
Huelskamp, Audrey N.
,
Woods, Andrew D.
,
Dhimolea, Eugen
,
Ramkissoon, Shakti H.
,
Spunt, Sheri L.
,
Rudzinski, Erin R.
,
Kell
Journal:
Molecular Case Studies
Year:
2020
File:
PDF, 10.84 MB
Your tags:
2020
2
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis
Wilk, Melissa A.
,
Braun, Andrew T.
,
Farrell, Philip M.
,
Laxova, Anita
,
Brown, Donna M.
,
Holt, James M.
,
Birch, Camille L.
,
Sosonkina, Nadiya
,
Wilk, Brandon M.
,
Worthey, Elizabeth A.
Journal:
Molecular Case Studies
Year:
2020
Language:
english
File:
PDF, 1.55 MB
Your tags:
english, 2020
3
Expanding the phenotypic spectrum in RDH12-associated retinal disease
Scott, Hilary A.
,
Place, Emily M.
,
Ferenchak, Kevin
,
Zampaglione, Erin
,
Wagner, Naomi E.
,
Chao, Katherine R.
,
DiTroia, Stephanie P.
,
Navarro-Gomez, Daniel
,
Mukai, Shizuo
,
Huckfeldt, Rachel M.
,
Pierce,
Journal:
Molecular Case Studies
Year:
2020
Language:
english
File:
PDF, 8.79 MB
Your tags:
english, 2020
4
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)
Biesecker, Leslie G.
,
Edwards, Matthew
,
O'Donnell, Sheridan
,
Doherty, Paula
,
MacDougall, Thomas
,
Tith, Kate
,
Kazakin, Julia
,
Schwartz, Brian
Journal:
Molecular Case Studies
Year:
2020
Language:
english
File:
PDF, 2.94 MB
Your tags:
english, 2020
5
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
Jauregui, Ruben
,
Cho, Ahra
,
Oh, Jin Kyun
,
Tanaka, Akemi J.
,
Sparrow, Janet R.
,
Tsang, Stephen H.
Journal:
Molecular Case Studies
Year:
2020
File:
PDF, 6.91 MB
Your tags:
2020
6
Corrigendum: 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
,
J. Waterfall, Joshua
,
Roberson, David
,
Ballew, Bari J.
,
Zhou, Weiyin
,
Anzick, Sarah L.
,
Jiang, Yuan
,
Wang, Yon
Journal:
Molecular Case Studies
Year:
2020
File:
PDF, 132 KB
Your tags:
2020
1
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