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Volume 12; Issue 3
Main
Genetics in Medicine
Volume 12; Issue 3
Genetics in Medicine
Volume 12; Issue 3
1
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
Hantash, Feras M
,
Goos, Dana G
,
Tsao, David
,
Quan, Franklin
,
Buller-Burckle, Arlene
,
Peng, Mei
,
Jarvis, Michael
,
Sun, Weimin
,
Strom, Charles M
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 2.06 MB
Your tags:
english, 2010
2
Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss
Chan, Dylan K
,
Schrijver, Iris
,
Chang, Kay W
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 361 KB
Your tags:
english, 2010
3
Perspectives and diagnostic considerations in spinal muscular atrophy
Prior, Thomas W
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 461 KB
Your tags:
english, 2010
4
Newborn screening—the unique role of unique evidence
Fleischman, Alan R
,
Howse, Jennifer L
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 74 KB
Your tags:
english, 2010
5
An evidence development process for newborn screening
Perrin, James M
,
Knapp, Alixandra A
,
Browning, Marsha F
,
Comeau, Anne Marie
,
Green, Nancy S
,
Lipstein, Ellen A
,
Metterville, Danielle R
,
Prosser, Lisa
,
Queally, Denise
,
Kemper, Alex R
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 130 KB
Your tags:
english, 2010
6
Newborn screening programs: Should 22q11 deletion syndrome be added?
Bales, Abigail M
,
Zaleski, Christina A
,
McPherson, Elizabeth W
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 298 KB
Your tags:
english, 2010
7
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children
Calonge, Ned
,
Green, Nancy S
,
Rinaldo, Piero
,
Lloyd-Puryear, Michele
,
Dougherty, Denise
,
Boyle, Coleen
,
Watson, Michael
,
Trotter, Tracy
,
Terry, Sharon F
,
Howell, R Rodney
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2010
8
“Creation,” a Film by Jon Amiel
McInerney, Joseph D
Journal:
Genetics in Medicine
Year:
2010
Language:
english
File:
PDF, 219 KB
Your tags:
english, 2010
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