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Author/Creator Saavedra‐Matiz, Carlos A.

1. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population. Issue 2 (2nd December 2015)

Authors:
Hughes, Erin E.; Stevens, Colleen F.; Saavedra‐Matiz, Carlos A.; Tavakoli, Norma P.; Krein, Lea M.; Parker, April; Zhang, Zhen; Maloney, Breanne; Vogel, Beth; DeCelie‐Germana, Joan; Kier, Catherine; Anbar, Ran D.; Berdella, Maria N.; Comber, Paul G.; Dozor, Allen J.; Goetz, Danielle M.; Guida, Lo...
Journal:
Human mutation
Issue:
Volume 37:Issue 2(2016)
Page Start:
201
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. Issue 11 (November 2016)

Authors:
Saavedra‐Matiz, Carlos A.; Luzi, Paola; Nichols, Matthew; Orsini, Joseph J.; Caggana, Michele; Wenger, David A.
Other Names:
Bongarzone Ernesto R. guestEditor.
Journal:
Journal of neuroscience research
Issue:
Volume 94:Issue 11(2016)
Page Start:
1076
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Issue 8 (22nd June 2015)

Authors:
Kay, Denise M.; Langfelder‐Schwind, Elinor; DeCelie‐Germana, Joan; Sharp, Jack K.; Maloney, Breanne; Tavakoli, Norma P.; Saavedra‐Matiz, Carlos A.; Krein, Lea M.; Caggana, Michele; Kier, Catherine; the New York State Cystic Fibrosis Newborn Screening Consortium
Journal:
Pediatric pulmonology
Issue:
Volume 50:Issue 8(2015:Aug.)
Page Start:
771
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Issue 8 (22nd June 2015)

Authors:
Kay, Denise M.; Langfelder‐Schwind, Elinor; DeCelie‐Germana, Joan; Sharp, Jack K.; Maloney, Breanne; Tavakoli, Norma P.; Saavedra‐Matiz, Carlos A.; Krein, Lea M.; Caggana, Michele; Kier, Catherine; the New York State Cystic Fibrosis Newborn Screening Consortium
Journal:
Pediatric pulmonology
Issue:
Volume 50:Issue 8(2015:Aug.)
Page Start:
771
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗