Results
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261.
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264.
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Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. [electronic resource] by
- Rohanizadegan, Mersedeh
- Abdo, Sara M
- O'Donnell-Luria, Anne
- Mihalek, Ivana
- Chen, Peggy
- Sanders, Marilyn
- Leeman, Kristen
- Cho, Megan
- Hung, Christina
- Bodamer, Olaf
Producer: 20180101
In:
Cold Spring Harbor molecular case studies vol. 3
Availability: No items available.
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265.
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266.
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267.
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268.
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Invasive Ductal Carcinoma Arising in Mucinous Cystic Neoplasm of Pancreas: A Case Report. [electronic resource] by
- Sawai, Hirozumi
- Kurimoto, Masaaki
- Koide, Shuji
- Kiriyama, Yuka
- Haba, Shin
- Matsuo, Yoichi
- Morimoto, Mamoru
- Koide, Hajime
- Kamiya, Atsushi
- Yamao, Kenji
Producer: 20190326
In:
The American journal of case reports vol. 20
Availability: No items available.
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269.
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271.
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Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. [electronic resource] by
- Haskell, Gloria T
- Mori, Mari
- Powell, Cynthia
- Amrhein, Timothy J
- Rice, Gillian I
- Bailey, Lauren
- Strande, Natasha
- Weck, Karen E
- Evans, James P
- Berg, Jonathan S
- Kishnani, Priya
Producer: 20190731
In:
Cold Spring Harbor molecular case studies vol. 4
Availability: No items available.
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