Volume 4; Issue 5

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Molecular Case Studies
Volume 4; Issue 5

Molecular Case Studies

Volume 4; Issue 5

1

Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst

Erdrich, Jennifer, Schaberg, Kurt B., Khodadoust, Michael S., Zhou, Li, Shelton, Andrew A., Visser, Brendan C., Ford, James M., Alizadeh, Ash A., Quake, Stephen R., Kunz, Pamela L., Beausang, John F.

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 7.08 MB

english, 2018

2

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

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

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 2.89 MB

english, 2018

3

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia

Khurana, Monica, Edwards, Donna, Rescorla, Frederic, Miller, Caroline, He, Ying, Sierra Potchanant, Elizabeth, Nalepa, Grzegorz

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 3.29 MB

english, 2018

4

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus

Furey, Charuta, Antwi, Prince, Duran, Daniel, Timberlake, Andrew T., Nelson-Williams, Carol, Matouk, Charles C., DiLuna, Michael L., Günel, Murat, Kahle, Kristopher T.

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 1.57 MB

english, 2018

5

Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type

David, Marjorie P., Venkatramani, Rajkumar, Lopez-Terrada, Dolores H., Roy, Angshumoy, Patil, Ninad, Fisher, Kevin E.

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 5.98 MB

english, 2018

6

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

Okur, Volkan, Ganapathi, Mythily, Wilson, Ashley, Chung, Wendy K.

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 864 KB

english, 2018

7

Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 243 KB

english, 2018

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