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Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. [electronic resource] by
- Strom, Charles M
- Crossley, Beryl
- Buller-Buerkle, Arlene
- Jarvis, Michael
- Quan, Franklin
- Peng, Mei
- Muralidharan, Kasinathan
- Pratt, Victoria
- Redman, Joy B
- Sun, Weimin
Producer: 20110425
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 13
Availability: No items available.
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14.
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CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. [electronic resource] by
- Sun, Weimin
- Anderson, Ben
- Redman, Joy
- Milunsky, Aubrey
- Buller, Arlene
- McGinniss, Matthew J
- Quan, Franklin
- Anguiano, Arturo
- Huang, Stephen
- Hantash, Feras
- Strom, Charles
Producer: 20060811
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 8
Availability: No items available.
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16.
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Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. [electronic resource] by
- Hantash, Feras M
- Redman, Joy B
- Starn, Kelsey
- Anderson, Ben
- Buller, Arlene
- McGinniss, Matthew J
- Quan, Franklin
- Peng, Mei
- Sun, Weimin
- Strom, Charles M
Producer: 20070402
In:
Human genetics vol. 119
Availability: No items available.
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18.
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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. [electronic resource] by
- Langfelder-Schwind, Elinor
- Karczeski, Barbara
- Strecker, Michelle N
- Redman, Joy
- Sugarman, Elaine A
- Zaleski, Christina
- Brown, Trisha
- Keiles, Steven
- Powers, Amy
- Ghate, Sumheda
- Darrah, Rebecca
Producer: 20140929
In:
Journal of genetic counseling vol. 23
Availability: No items available.
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19.
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Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. [electronic resource] by
- Park, Noh Jin
- Morgan, Craig
- Sharma, Rajesh
- Li, Yuanyin
- Lobo, Raynah M
- Redman, Joy B
- Salazar, Denise
- Sun, Weimin
- Neidich, Julie A
- Strom, Charles M
Producer: 20100222
In:
Pediatric research vol. 67
Availability: No items available.
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20.
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Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. [electronic resource] by
- McGinniss, Matthew J
- Chen, Christina
- Redman, Joy B
- Buller, Arlene
- Quan, Franklin
- Peng, Mei
- Giusti, Robert
- Hantash, Feras M
- Huang, Donghui
- Sun, Weimin
- Strom, Charles M
Producer: 20060321
In:
Human genetics vol. 118
Availability: No items available.
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