Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. [electronic resource] by
- Gripp, Karen W
- Robbins, Katherine M
- Sobreira, Nara L
- Witmer, P Dane
- Bird, Lynne M
- Avela, Kristiina
- Makitie, Outi
- Alves, Daniela
- Hogue, Jacob S
- Zackai, Elaine H
- Doheny, Kimberly F
- Stabley, Deborah L
- Sol-Church, Katia
Producer: 20150916
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
|
|
6.
|
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. [electronic resource] by
- LaCroix, Amy J
- Stabley, Deborah
- Sahraoui, Rebecca
- Adam, Margaret P
- Mehaffey, Michele
- Kernan, Kelly
- Myers, Candace T
- Fagerstrom, Carrie
- Anadiotis, George
- Akkari, Yassmine M
- Robbins, Katherine M
- Gripp, Karen W
- Baratela, Wagner A R
- Bober, Michael B
- Duker, Angela L
- Doherty, Dan
- Dempsey, Jennifer C
- Miller, Daniel G
- Kircher, Martin
- Bamshad, Michael J
- Nickerson, Deborah A
- Mefford, Heather C
- Sol-Church, Katia
Producer: 20191104
In:
American journal of human genetics vol. 104
Availability: No items available.
|