Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. [electronic resource] by
- Lazarin, Gabriel A
- Haque, Imran S
- Nazareth, Shivani
- Iori, Kevin
- Patterson, A Scott
- Jacobson, Jessica L
- Marshall, John R
- Seltzer, William K
- Patrizio, Pasquale
- Evans, Eric A
- Srinivasan, Balaji S
Producer: 20130816
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 15
Availability: No items available.
|
|
5.
|
SCA2 may present as levodopa-responsive parkinsonism. [electronic resource] by
- Payami, Haydeh
- Nutt, John
- Gancher, Steven
- Bird, Thomas
- McNeal, Melissa Gonzales
- Seltzer, William K
- Hussey, Jennifer
- Lockhart, Paul
- Gwinn-Hardy, Katrina
- Singleton, Amanda A
- Singleton, Andrew B
- Hardy, John
- Farrer, Matthew
Producer: 20030728
In:
Movement disorders : official journal of the Movement Disorder Society vol. 18
Availability: No items available.
|
|
6.
|
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. [electronic resource] by
- Andersen, Peter M
- Sims, Katherine B
- Xin, Winnie W
- Kiely, Rosemary
- O'Neill, Gilmore
- Ravits, John
- Pioro, Erik
- Harati, Yadollah
- Brower, Richard D
- Levine, Johanan S
- Heinicke, Hedvika U
- Seltzer, William
- Boss, Michael
- Brown, Robert H
Producer: 20031021
In:
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases vol. 4
Availability: No items available.
|
|
7.
|
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. [electronic resource] by
- Garcia-Gonzalez, Miguel A
- Jones, Jeffrey G
- Allen, Susan K
- Palatucci, Christopher M
- Batish, Sat D
- Seltzer, William K
- Lan, Zheng
- Allen, Erica
- Qian, Feng
- Lens, Xose M
- Pei, York
- Germino, Gregory G
- Watnick, Terry J
Producer: 20071129
In:
Molecular genetics and metabolism vol. 92
Availability: No items available.
|
|
8.
|
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. [electronic resource] by
- Ikeda, Yoshio
- Dalton, Joline C
- Moseley, Melinda L
- Gardner, Kathy L
- Bird, Thomas D
- Ashizawa, Tetsuo
- Seltzer, William K
- Pandolfo, Massimo
- Milunsky, Aubrey
- Potter, Nicholas T
- Shoji, Mikio
- Vincent, John B
- Day, John W
- Ranum, Laura P W
Producer: 20040720
In:
American journal of human genetics vol. 75
Availability: No items available.
|
|
9.
|
The spectrum of SCN1A-related infantile epileptic encephalopathies. [electronic resource] by
- Harkin, Louise A
- McMahon, Jacinta M
- Iona, Xenia
- Dibbens, Leanne
- Pelekanos, James T
- Zuberi, Sameer M
- Sadleir, Lynette G
- Andermann, Eva
- Gill, Deepak
- Farrell, Kevin
- Connolly, Mary
- Stanley, Thorsten
- Harbord, Michael
- Andermann, Frederick
- Wang, Jing
- Batish, Sat Dev
- Jones, Jeffrey G
- Seltzer, William K
- Gardner, Alison
- Sutherland, Grant
- Berkovic, Samuel F
- Mulley, John C
- Scheffer, Ingrid E
Producer: 20070416
In:
Brain : a journal of neurology vol. 130
Availability: No items available.
|
|
10.
|
Huntington's Disease-like 2 (HDL2) in North America and Japan. [electronic resource] by
- Margolis, Russell L
- Holmes, Susan E
- Rosenblatt, Adam
- Gourley, Lisa
- O'Hearn, Elizabeth
- Ross, Christopher A
- Seltzer, William K
- Walker, Ruth H
- Ashizawa, Tetsuo
- Rasmussen, Astrid
- Hayden, Michael
- Almqvist, Elisabeth W
- Harris, Juliette
- Fahn, Stanley
- MacDonald, Marcy E
- Mysore, Jayalakshmi
- Shimohata, Takayoshi
- Tsuji, Shoji
- Potter, Nicholas
- Nakaso, Kazuhiro
- Adachi, Yoshiki
- Nakashima, Kenji
- Bird, Thomas
- Krause, Amanda
- Greenstein, Penny
Producer: 20050110
In:
Annals of neurology vol. 56
Availability: No items available.
|
|
11.
|
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. [electronic resource] by
- Putcha, Girish V
- Bejjani, Bassem A
- Bleoo, Stacey
- Booker, Jessica K
- Carey, John C
- Carson, Nancy
- Das, Soma
- Dempsey, Melissa A
- Gastier-Foster, Julie M
- Greinwald, John H
- Hoffmann, Marcy L
- Jeng, Linda Jo Bone
- Kenna, Margaret A
- Khababa, Ishrag
- Lilley, Margaret
- Mao, Rong
- Muralidharan, Kasinathan
- Otani, Iris M
- Rehm, Heidi L
- Schaefer, Fred
- Seltzer, William K
- Spector, Elaine B
- Springer, Michelle A
- Weck, Karen E
- Wenstrup, Richard J
- Withrow, Stacey
- Wu, Bai-Lin
- Zariwala, Maimoona A
- Schrijver, Iris
Producer: 20070907
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 9
Availability: No items available.
|