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Wotton, Tiffany
72
results:
Search for persons
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Online (72)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (30)
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1
Newborn screening (NBS) for spinal muscular atrophy: the 5-..:
Wotton, Tiffany
;
Kim, Won Tae
;
Junek, Rosie
...
Pathology. 56 (2024) - p. S98 , 2024
Link:
https://doi.org/10.1016/..
?
2
AAV-delivered hepato-adrenal cooperativity in steroidogenes..:
Graves, Lara E.
;
van Dijk, Eva B.
;
Zhu, Erhua
...
Molecular Therapy - Methods & Clinical Development. 32 (2024) 2 - p. 101232 , 2024
Link:
https://doi.org/10.1016/..
?
3
Biotinidase deficiency: A treatable neurometabolic disorder:
Devanapalli, Beena
;
Sze Hui Wong, Rachel
;
Lim, Natalie
...
Brain and Development Case Reports. 2 (2024) 2 - p. 100021 , 2024
Link:
https://doi.org/10.1016/..
?
4
Counting Conditions on Newborn Bloodspot Screening Panels i..:
Heather, Natasha
;
Greaves, Ronda F.
;
Bhattacharya, Kaustuv
...
International Journal of Neonatal Screening. 10 (2024) 3 - p. 47 , 2024
Link:
https://doi.org/10.3390/..
?
5
Developmental delay and non-phenylketonuria (PKU) hyperphen..:
Wong, Rachel Sze Hui
;
Mohammad, Shekeeb
;
Parayil Sankaran, Bindu
...
Brain and Development. 45 (2023) 9 - p. 523-531 , 2023
Link:
https://doi.org/10.1016/..
?
6
Newborn Screening for the Diagnosis and Treatment of Duchen..:
Farrar, Michelle A.
;
Kariyawasam, Didu
;
Grattan, Sarah
...
Journal of Neuromuscular Diseases. 10 (2023) 1 - p. 15-28 , 2023
Link:
https://doi.org/10.3233/..
?
7
Fifty years of newborn screening for congenital hypothyroid..:
Huynh, Tony
;
Greaves, Ronda
;
Mawad, Nazha
...
Clinical Chemistry and Laboratory Medicine (CCLM). 60 (2022) 10 - p. 1551-1561 , 2022
Link:
https://doi.org/10.1515/..
?
8
DNA Methylation at Birth Predicts Intellectual Functioning ..:
Kraan, Claudine M
;
Baker, Emma K
;
Arpone, Marta
...
International Journal of Molecular Sciences. 21 (2020) 20 - p. 7735 , 2020
Link:
https://doi.org/10.3390/..
?
9
Are We Ready for Fragile X Newborn Screening Testing?—Lesso..:
Wotton, Tiffany
;
Wiley, Veronica
;
Bennetts, Bruce
...
International Journal of Neonatal Screening. 4 (2018) 1 - p. 9 , 2018
Link:
https://doi.org/10.3390/..
?
10
The use of droplet digital PCR and high resolution melt for..:
Godler, David E.
;
Christodoulou, John
;
Bruno, Damien
...
Pathology. 50 (2018) - p. S30 , 2018
Link:
https://doi.org/10.1016/..
?
11
FMR1 allele size distribution in 35,000 males and females: ..:
Kraan, Claudine M.
;
Bui, Quang M.
;
Field, Mike
...
Genetics in Medicine. 20 (2018) 12 - p. 1627-1634 , 2018
Link:
https://doi.org/10.1038/..
?
12
Early Detection of Fragile X Syndrome: Applications of a No..:
Godler, David E
;
Slater, Howard R
;
Bretherton, Lesley
...
Clinical Chemistry. 60 (2014) 7 - p. 963-973 , 2014
Link:
https://doi.org/10.1373/..
?
13
Fragile X protein in newborn dried blood spots:
Adayev, Tatyana
;
LaFauci, Giuseppe
;
Dobkin, Carl
...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
?
14
Maternal attitudes to newborn screening for fragile X syndr..:
Christie, Louise
;
Wotton, Tiffany
;
Bennetts, Bruce
...
American Journal of Medical Genetics Part A. 161 (2013) 2 - p. 301-311 , 2013
Link:
https://doi.org/10.1002/..
?
15
Fragile X–related element 2 methylation analysis may provid..:
Inaba, Yoshimi
;
Herlihy, Amy S.
;
Schwartz, Charles E.
...
Genetics in Medicine. 15 (2013) 4 - p. 290-298 , 2013
Link:
https://doi.org/10.1038/..
1-15