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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. [electronic resource] by
- Hunter, Jesse M
- Ahearn, Mary Ellen
- Balak, Christopher D
- Liang, Winnie S
- Kurdoglu, Ahmet
- Corneveaux, Jason J
- Russell, Megan
- Huentelman, Matthew J
- Craig, David W
- Carpten, John
- Coons, Stephen W
- DeMello, Daphne E
- Hall, Judith G
- Bernes, Saunder M
- Baumbach-Reardon, Lisa
Producer: 20150806
In:
Molecular genetics & genomic medicine vol. 3
Availability: No items available.
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. [electronic resource] by
- Brunetti-Pierri, Nicola
- Berg, Jonathan S
- Scaglia, Fernando
- Belmont, John
- Bacino, Carlos A
- Sahoo, Trilochan
- Lalani, Seema R
- Graham, Brett
- Lee, Brendan
- Shinawi, Marwan
- Shen, Joseph
- Kang, Sung-Hae L
- Pursley, Amber
- Lotze, Timothy
- Kennedy, Gail
- Lansky-Shafer, Susan
- Weaver, Christine
- Roeder, Elizabeth R
- Grebe, Theresa A
- Arnold, Georgianne L
- Hutchison, Terry
- Reimschisel, Tyler
- Amato, Stephen
- Geragthy, Michael T
- Innis, Jeffrey W
- Obersztyn, Ewa
- Nowakowska, Beata
- Rosengren, Sally S
- Bader, Patricia I
- Grange, Dorothy K
- Naqvi, Sayed
- Garnica, Adolfo D
- Bernes, Saunder M
- Fong, Chin-To
- Summers, Anne
- Walters, W David
- Lupski, James R
- Stankiewicz, Pawel
- Cheung, Sau Wai
- Patel, Ankita
Producer: 20081216
In:
Nature genetics vol. 40
Availability: No items available.
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