Results
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Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. [electronic resource] by
- Wang, Jia-Chi
- Dang, Linda
- Lomax, Brenda
- Turner, Lesley
- Shago, Mary
- Teebi, Ahmad S
- Klatt, Regan
- MacLeod, Patrick M
- Yong, Siu-Li
- Nowaczyk, Malgorzata J M
- Eydoux, Patrice
Producer: 20090416
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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4.
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Rett syndrome: investigation of nine patients, including PET scan. [electronic resource] by
- Dunn, Henry G
- Stoessl, A Jon
- Ho, Helena H
- MacLeod, Patrick M
- Poskitt, Kenneth J
- Doudet, Doris J
- Schulzer, Michael
- Blackstock, Derek
- Dobko, Teresa
- Koop, Ben
- de Amorim, Giovana V
Producer: 20030107
In:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques vol. 29
Availability: No items available.
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5.
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Clinical stringency greatly improves mutation detection in Rett syndrome. [electronic resource] by
- Gauthier, Julie
- de Amorim, Giovana
- Mnatzakanian, Gevork N
- Saunders, Carol
- Vincent, John B
- Toupin, Sylvie
- Kauffman, David
- St-Onge, Judith
- Laurent, Sandra
- Macleod, Patrick M
- Minassian, Berge A
- Rouleau, Guy A
Producer: 20051130
In:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques vol. 32
Availability: No items available.
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6.
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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. [electronic resource] by
- Thibodeau, My Linh
- Peters, Colin H
- Townsend, Katelin N
- Shen, Yaoqing
- Hendson, Glenda
- Adam, Shelin
- Selby, Kathryn
- Macleod, Patrick M
- Gershome, Cynthia
- Ruben, Peter
- Jones, Steven J M
- Friedman, Jan M
- Gibson, William T
- Horvath, Gabriella A
Producer: 20180605
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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