Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
|
|
6.
|
Polymicrogyria and absence of pineal gland due to PAX6 mutation. [electronic resource] by
- Mitchell, Tejal N
- Free, Samantha L
- Williamson, Kathleen A
- Stevens, John M
- Churchill, Amanda J
- Hanson, Isabel M
- Shorvon, Simon D
- Moore, Anthony T
- van Heyningen, Veronica
- Sisodiya, Sanjay M
Producer: 20030604
In:
Annals of neurology vol. 53
Availability: No items available.
|
|
7.
|
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. [electronic resource] by
- Sale, Michèle M
- Craig, Jamie E
- Charlesworth, Jacinta C
- FitzGerald, Liesel M
- Hanson, Isabel M
- Dickinson, Joanne L
- Matthews, Sarah J
- Heyningen Vv, Veronica van
- Fingert, John H
- Mackey, David A
Producer: 20030103
In:
Human mutation vol. 20
Availability: No items available.
|
|
8.
|
Heterozygous mutations of OTX2 cause severe ocular malformations. [electronic resource] by
- Ragge, Nicola K
- Brown, Alison G
- Poloschek, Charlotte M
- Lorenz, Birgit
- Henderson, R Alex
- Clarke, Michael P
- Russell-Eggitt, Isabelle
- Fielder, Alistair
- Gerrelli, Dianne
- Martinez-Barbera, Juan Pedro
- Ruddle, Piers
- Hurst, Jane
- Collin, J Richard O
- Salt, Alison
- Cooper, Simon T
- Thompson, Pamela J
- Sisodiya, Sanjay M
- Williamson, Kathleen A
- Fitzpatrick, David R
- van Heyningen, Veronica
- Hanson, Isabel M
Producer: 20050708
In:
American journal of human genetics vol. 76
Availability: No items available.
|
|
9.
|
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. [electronic resource] by
- Williamson, Kathleen A
- Hall, H Nikki
- Owen, Liusaidh J
- Livesey, Benjamin J
- Hanson, Isabel M
- Adams, G G W
- Bodek, Simon
- Calvas, Patrick
- Castle, Bruce
- Clarke, Michael
- Deng, Alexander T
- Edery, Patrick
- Fisher, Richard
- Gillessen-Kaesbach, Gabriele
- Heon, Elise
- Hurst, Jane
- Josifova, Dragana
- Lorenz, Birgit
- McKee, Shane
- Meire, Francoise
- Moore, Anthony T
- Parker, Michael
- Reiff, Charlotte M
- Self, Jay
- Tobias, Edward S
- Verheij, Joke B G M
- Willems, Marjolaine
- Williams, Denise
- van Heyningen, Veronica
- Marsh, Joseph A
- FitzPatrick, David R
Producer: 20210203
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
|
|
10.
|
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. [electronic resource] by
- Ansari, Morad
- Rainger, Jacqueline
- Hanson, Isabel M
- Williamson, Kathleen A
- Sharkey, Freddie
- Harewood, Louise
- Sandilands, Angela
- Clayton-Smith, Jill
- Dollfus, Helene
- Bitoun, Pierre
- Meire, Francoise
- Fantes, Judy
- Franco, Brunella
- Lorenz, Birgit
- Taylor, David S
- Stewart, Fiona
- Willoughby, Colin E
- McEntagart, Meriel
- Khaw, Peng Tee
- Clericuzio, Carol
- Van Maldergem, Lionel
- Williams, Denise
- Newbury-Ecob, Ruth
- Traboulsi, Elias I
- Silva, Eduardo D
- Madlom, Mukhlis M
- Goudie, David R
- Fleck, Brian W
- Wieczorek, Dagmar
- Kohlhase, Juergen
- McTrusty, Alice D
- Gardiner, Carol
- Yale, Christopher
- Moore, Anthony T
- Russell-Eggitt, Isabelle
- Islam, Lily
- Lees, Melissa
- Beales, Philip L
- Tuft, Stephen J
- Solano, Juan B
- Splitt, Miranda
- Hertz, Jens Michael
- Prescott, Trine E
- Shears, Deborah J
- Nischal, Ken K
- Doco-Fenzy, Martine
- Prieur, Fabienne
- Temple, I Karen
- Lachlan, Katherine L
- Damante, Giuseppe
- Morrison, Danny A
- van Heyningen, Veronica
- FitzPatrick, David R
Producer: 20170221
In:
PloS one vol. 11
Availability: No items available.
|