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Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles. [electronic resource] by
- Nolin, Sarah L
- Glicksman, Anne
- Tortora, Nicole
- Allen, Emily
- Macpherson, James
- Mila, Montserrat
- Vianna-Morgante, Angela M
- Sherman, Stephanie L
- Dobkin, Carl
- Latham, Gary J
- Hadd, Andrew G
Producer: 20200608
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
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13.
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Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. [electronic resource] by
- Murray, Anna
- Schoemaker, Minouk J
- Bennett, Claire E
- Ennis, Sarah
- Macpherson, James N
- Jones, Michael
- Morris, Danielle H
- Orr, Nick
- Ashworth, Alan
- Jacobs, Patricia A
- Swerdlow, Anthony J
Producer: 20140804
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 16
Availability: No items available.
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14.
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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. [electronic resource] by
- Nolin, Sarah L
- Brown, W Ted
- Glicksman, Anne
- Houck, George E
- Gargano, Alice D
- Sullivan, Amy
- Biancalana, Valérie
- Bröndum-Nielsen, Karen
- Hjalgrim, Helle
- Holinski-Feder, Elke
- Kooy, Frank
- Longshore, John
- Macpherson, James
- Mandel, Jean-Louis
- Matthijs, Gert
- Rousseau, Francois
- Steinbach, Peter
- Väisänen, Marja-Leena
- von Koskull, Harriet
- Sherman, Stephanie L
Producer: 20030318
In:
American journal of human genetics vol. 72
Availability: No items available.
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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. [electronic resource] by
- Afawi, Zaid
- Oliver, Karen L
- Kivity, Sara
- Mazarib, Aziz
- Blatt, Ilan
- Neufeld, Miriam Y
- Helbig, Katherine L
- Goldberg-Stern, Hadassa
- Misk, Adel J
- Straussberg, Rachel
- Walid, Simri
- Mahajnah, Muhammad
- Lerman-Sagie, Tally
- Ben-Zeev, Bruria
- Kahana, Esther
- Masalha, Rafik
- Kramer, Uri
- Ekstein, Dana
- Shorer, Zamir
- Wallace, Robyn H
- Mangelsdorf, Marie
- MacPherson, James N
- Carvill, Gemma L
- Mefford, Heather C
- Jackson, Graeme D
- Scheffer, Ingrid E
- Bahlo, Melanie
- Gecz, Jozef
- Heron, Sarah E
- Corbett, Mark
- Mulley, John C
- Dibbens, Leanne M
- Korczyn, Amos D
- Berkovic, Samuel F
Producer: 20160701
In:
Neurology vol. 86
Availability: No items available.
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