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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
By:
- Nicholas, Thomas J.;
- Al‐Sweel, Najla;
- Farrell, Andrew;
- Mao, Rong;
- Bayrak‐Toydemir, Pinar;
- Miller, Christine E.;
- Bentley, Dawn;
- Palmquist, Rachel;
- Moore, Barry;
- Hernandez, Edgar J.;
- Cormier, Michael J.;
- Fredrickson, Eric;
- Noble, Katherine;
- Rynearson, Shawn;
- Holt, Carson;
- Karren, Mary Anne;
- Bonkowsky, Joshua L.;
- Tristani‐Firouzi, Martin;
- Yandell, Mark;
- Marth, Gabor
Publication type:
Article
Are you having the impact you want with your clients?
Published in:
Medical Writing, 2016, v. 25, n. 1, p. 78
By:
- Bentley, Dawn
Publication type:
Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
By:
- Reynolds, Hayley M.;
- Ting Wen;
- Farrell, Andrew;
- Rong Mao;
- Moore, Barry;
- Boyden, Steven E.;
- Bayrak-Toydemir, Pinar;
- Nicholas, Thomas J.;
- Rynearson, Shawn;
- Holt, Carson;
- Miller, Christine;
- Noble, Katherine;
- Bentley, Dawn;
- Palmquist, Rachel;
- Ostrander, Betsy;
- Manberg, Stephanie;
- Bonkowsky, Joshua L.;
- Shayota, Brian J.;
- Jenkins, Sabrina Malone
Publication type:
Article