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Kirwin, Susan
42
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Online (42)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (18)
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1
Mild Idiopathic Infantile Hypercalcemia—Part 1: Biochemical..:
Lenherr-Taube, Nina
;
Young, Edwin J
;
Furman, Michelle
...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 10 - p. 2915-2937 , 2021
Link:
https://doi.org/10.1210/..
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2
Estimating the relative frequency of leukodystrophies and r..:
Schmidt, Johanna L.
;
Pizzino, Amy
;
Nicholl, Jessica
...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1906-1912 , 2020
Link:
https://doi.org/10.1002/..
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3
Erratum to "Detection of rarely identified multiple mutatio..:
Chapleau, Christopher A.
;
Lane, Jane
;
Kirwin, Susan
...
American Journal of Medical Genetics Part A. 164 (2014) 5 - p. 1346-1346 , 2014
Link:
https://doi.org/10.1002/..
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4
Hypoplastic Left Heart Syndrome: Molecular Consequences of ..:
Shay, Ashley Elizabeth
;
Kirwin, Susan
;
Prospero, Carol
..
The FASEB Journal. 26 (2012) S1 - p. , 2012
Link:
https://doi.org/10.1096/..
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5
Leptin Predicts Somatic Growth in the Premature Infant:
Spear, Michael L
;
Hassink, Sandra G
;
Leef, Kathy
...
Pediatric Research. 45 (1999) 4, Part 2 of 2 - p. 291A-291A , 1999
Link:
https://doi.org/10.1203/..
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6
Comparison of variants in TPMT and NUDT15 between sequencin..:
Cook, Kelsey J.
;
Grusauskas, Victoria
;
Gloe, Lucy
...
Clinical and Translational Science. 16 (2023) 8 - p. 1352-1358 , 2023
Link:
https://doi.org/10.1111/..
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7
Key Considerations for Selecting a Genomic Decision Support..:
Cook, Kelsey J.
;
Duong, Benjamin Q.
;
Seligson, Nathan D.
...
Clinical Pharmacology & Therapeutics. 110 (2021) 3 - p. 555-558 , 2021
Link:
https://doi.org/10.1002/..
?
8
Genome sequencing in persistently unsolved white matter dis..:
Helman, Guy
;
Lajoie, Bryan R.
;
Crawford, Joanna
...
Annals of Clinical and Translational Neurology. 7 (2020) 1 - p. 144-152 , 2020
Link:
https://doi.org/10.1002/..
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9
A mutation in TRPV4 results in altered chondrocyte calcium ..:
Hurd, Lauren
;
Kirwin, Susan M.
;
Boggs, Mary
...
American Journal of Medical Genetics Part A. 167 (2015) 10 - p. 2286-2293 , 2015
Link:
https://doi.org/10.1002/..
?
10
Tafazzin splice variants and mutations in Barth syndrome:
Kirwin, Susan M.
;
Manolakos, Athena
;
Barnett, Sarah Swain
.
Molecular Genetics and Metabolism. 111 (2014) 1 - p. 26-32 , 2014
Link:
https://doi.org/10.1016/..
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11
Detection of rarely identified multiple mutations in MECP2 ..:
Chapleau, Christopher A.
;
Lane, Jane
;
Kirwin, Susan M.
...
American Journal of Medical Genetics Part A. 161 (2013) 7 - p. 1638-1646 , 2013
Link:
https://doi.org/10.1002/..
?
12
A homozygous double mutation in SMN1: a complicated genetic..:
Kirwin, Susan M.
;
Vinette, Kathy M. B.
;
Gonzalez, Iris L.
...
Molecular Genetics & Genomic Medicine. 1 (2013) 2 - p. 113-117 , 2013
Link:
https://doi.org/10.1002/..
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13
Choreoathetosis, congenital hypothyroidism and neonatal res..:
Barnett, Christopher P.
;
Mencel, Justin J.
;
Gecz, Jozef
...
American Journal of Medical Genetics Part A. 158A (2012) 12 - p. 3168-3173 , 2012
Link:
https://doi.org/10.1002/..
?
14
A novel mutation in the GCM2 gene causing severe congenital..:
Doyle, Daniel
;
Kirwin, Susan M.
;
Sol-Church, Katia
.
Journal of Pediatric Endocrinology and Metabolism. 25 (2012) 7-8 - p. , 2012
Link:
https://doi.org/10.1515/..
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15
Brain-Lung-Thyroid Disease: Clinical Features of a Kindred ..:
Ferrara, Joseph M.
;
Adam, Octavian R.
;
Kirwin, Susan M.
...
Journal of Child Neurology. 27 (2011) 1 - p. 68-73 , 2011
Link:
https://doi.org/10.1177/..
1-15