Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. [electronic resource] by
- Below, Jennifer E
- Earl, Dawn L
- Shively, Kathryn M
- McMillin, Margaret J
- Smith, Joshua D
- Turner, Emily H
- Stephan, Mark J
- Al-Gazali, Lihadh I
- Hertecant, Jozef L
- Chitayat, David
- Unger, Sheila
- Cohn, Daniel H
- Krakow, Deborah
- Swanson, James M
- Faustman, Elaine M
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20130312
In:
American journal of human genetics vol. 92
Availability: No items available.
|
|
5.
|
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. [electronic resource] by
- Chong, Jessica X
- Burrage, Lindsay C
- Beck, Anita E
- Marvin, Colby T
- McMillin, Margaret J
- Shively, Kathryn M
- Harrell, Tanya M
- Buckingham, Kati J
- Bacino, Carlos A
- Jain, Mahim
- Alanay, Yasemin
- Berry, Susan A
- Carey, John C
- Gibbs, Richard A
- Lee, Brendan H
- Krakow, Deborah
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20150729
In:
American journal of human genetics vol. 96
Availability: No items available.
|
|
6.
|
Mutations in ECEL1 cause distal arthrogryposis type 5D. [electronic resource] by
- McMillin, Margaret J
- Below, Jennifer E
- Shively, Kathryn M
- Beck, Anita E
- Gildersleeve, Heidi I
- Pinner, Jason
- Gogola, Gloria R
- Hecht, Jacqueline T
- Grange, Dorothy K
- Harris, David J
- Earl, Dawn L
- Jagadeesh, Sujatha
- Mehta, Sarju G
- Robertson, Stephen P
- Swanson, James M
- Faustman, Elaine M
- Mefford, Heather C
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20130312
In:
American journal of human genetics vol. 92
Availability: No items available.
|
|
7.
|
Mutations in KCTD1 cause scalp-ear-nipple syndrome. [electronic resource] by
- Marneros, Alexander G
- Beck, Anita E
- Turner, Emily H
- McMillin, Margaret J
- Edwards, Matthew J
- Field, Michael
- de Macena Sobreira, Nara Lygia
- Perez, Ana Beatriz A
- Fortes, Jose A R
- Lampe, Anne K
- Giovannucci Uzielli, Maria Luisa
- Gordon, Christopher T
- Plessis, Ghislaine
- Le Merrer, Martine
- Amiel, Jeanne
- Reichenberger, Ernst
- Shively, Kathryn M
- Cerrato, Felecia
- Labow, Brian I
- Tabor, Holly K
- Smith, Joshua D
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20130604
In:
American journal of human genetics vol. 92
Availability: No items available.
|
|
8.
|
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. [electronic resource] by
- Chong, Jessica X
- McMillin, Margaret J
- Shively, Kathryn M
- Beck, Anita E
- Marvin, Colby T
- Armenteros, Jose R
- Buckingham, Kati J
- Nkinsi, Naomi T
- Boyle, Evan A
- Berry, Margaret N
- Bocian, Maureen
- Foulds, Nicola
- Uzielli, Maria Luisa Giovannucci
- Haldeman-Englert, Chad
- Hennekam, Raoul C M
- Kaplan, Paige
- Kline, Antonie D
- Mercer, Catherine L
- Nowaczyk, Malgorzata J M
- Klein Wassink-Ruiter, Jolien S
- McPherson, Elizabeth W
- Moreno, Regina A
- Scheuerle, Angela E
- Shashi, Vandana
- Stevens, Cathy A
- Carey, John C
- Monteil, Arnaud
- Lory, Philippe
- Tabor, Holly K
- Smith, Joshua D
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20150512
In:
American journal of human genetics vol. 96
Availability: No items available.
|
|
9.
|
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. [electronic resource] by
- McMillin, Margaret J
- Beck, Anita E
- Chong, Jessica X
- Shively, Kathryn M
- Buckingham, Kati J
- Gildersleeve, Heidi I S
- Aracena, Mariana I
- Aylsworth, Arthur S
- Bitoun, Pierre
- Carey, John C
- Clericuzio, Carol L
- Crow, Yanick J
- Curry, Cynthia J
- Devriendt, Koenraad
- Everman, David B
- Fryer, Alan
- Gibson, Kate
- Giovannucci Uzielli, Maria Luisa
- Graham, John M
- Hall, Judith G
- Hecht, Jacqueline T
- Heidenreich, Randall A
- Hurst, Jane A
- Irani, Sarosh
- Krapels, Ingrid P C
- Leroy, Jules G
- Mowat, David
- Plant, Gordon T
- Robertson, Stephen P
- Schorry, Elizabeth K
- Scott, Richard H
- Seaver, Laurie H
- Sherr, Elliott
- Splitt, Miranda
- Stewart, Helen
- Stumpel, Constance
- Temel, Sehime G
- Weaver, David D
- Whiteford, Margo
- Williams, Marc S
- Tabor, Holly K
- Smith, Joshua D
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20140627
In:
American journal of human genetics vol. 94
Availability: No items available.
|