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Weisfeld-Adams, James D.
44
results:
Search for persons
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Online (44)
Mediatypes
E-Books (1)
Articles (Online) (21)
Bookchapter (Online) (1)
OpenAccess-fulltext (21)
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?
1
Biochemical signatures mimicking multiple carboxylase defic..:
Larson, Austin A.
;
Balasubramaniam, Shanti
;
Christodoulou, John
...
Mitochondrion. 44 (2019) - p. 58-64 , 2019
Link:
https://doi.org/10.1016/..
?
2
MN1 C-terminal truncation syndrome is a novel neurodevelopm..:
Mak, Christopher C Y
;
Doherty, Dan
;
Lin, Angela E
...
Brain. 143 (2019) 1 - p. 55-68 , 2019
Link:
https://doi.org/10.1093/..
?
3
Conducting an investigator-initiated randomized double-blin..:
Ah Mew, Nicholas
;
Cnaan, Avital
;
McCarter, Robert
...
Translational Science of Rare Diseases. 3 (2018) 3-4 - p. 157-170 , 2018
Link:
https://doi.org/10.3233/..
?
4
Neonatal Onset Interstitial Lung Disease as a Primary Prese..:
, In:
JIMD Reports; JIMD Reports, Volume 43
,
Bush, Douglas
;
Sremba, Leighann
;
Lomax, Kate
... - p. 71-77 , 2018
Link:
https://doi.org/10.1007/..
?
5
Erratum: A de novo 2.78-Mb duplication on chromosome 21q22...:
Weisfeld-Adams, James D
;
Tkachuk, Amanda K
;
Maclean, Kenneth N
..
npj Genomic Medicine. 2 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1038/..
?
6
De novo and inherited SCN8A epilepsy mutations detected by ..:
Butler, Kameryn M.
;
da Silva, Cristina
;
Shafir, Yuval
...
Epilepsy Research. 129 (2017) - p. 17-25 , 2017
Link:
https://doi.org/10.1016/..
?
7
Prophylactic immune modulation in infantile Ρompe disease u..:
Kazi, Zoheb B.
;
Desai, Ankit K.
;
Erwin, Angelika
...
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S65-S66 , 2016
Link:
https://doi.org/10.1016/..
?
8
A de novo 2.78-Mb duplication on chromosome 21q22.11 implic..:
Weisfeld-Adams, James D
;
Tkachuk, Amanda K
;
Maclean, Kenneth N
..
npj Genomic Medicine. 1 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1038/..
?
9
Complex Syndactyly and Atypical Ectrodactyly in a Child wit..:
Enchautegui-Colon, Yazmin
;
Weisfeld-Adams, James D.
;
Hennerich, Deborrah
...
Cancer Genetics. 208 (2015) 6 - p. 364 , 2015
Link:
https://doi.org/10.1016/..
?
10
Ocular disease in the cobalamin C defect: A review of the l..:
Weisfeld-Adams, James D.
;
McCourt, Emily A.
;
Diaz, George A.
.
Molecular Genetics and Metabolism. 114 (2015) 4 - p. 537-546 , 2015
Link:
https://doi.org/10.1016/..
?
11
Impact of tumor location and pathological discordance on su..:
Eisenstat, David D.
;
Pollack, Ian F.
;
Demers, Alain
...
Journal of Neuro-Oncology. 121 (2014) 3 - p. 573-581 , 2014
Link:
https://doi.org/10.1007/..
?
12
Optic Neuropathy in Atypical Chediak-Higashi Syndrome with ..:
Rucker, Janet
;
Cho, Catherine
;
Weisfeld-Adams, James
.
Neurology. 80 (2013) 7_supplement - p. , 2013
Link:
https://doi.org/10.1212/..
?
13
Atypical Chédiak-Higashi syndrome with attenuated phenotype..:
Weisfeld-Adams, James D
;
Mehta, Lakshmi
;
Rucker, Janet C
...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 46 , 2013
Link:
https://doi.org/10.1186/..
?
14
Neurologic and neurodevelopmental phenotypes in young child..:
Weisfeld-Adams, James D.
;
Bender, H. Allison
;
Miley-Åkerstedt, Anna
...
Molecular Genetics and Metabolism. 110 (2013) 3 - p. 241-247 , 2013
Link:
https://doi.org/10.1016/..
?
15
Phenotypic heterogeneity in a family with a small atypical ..:
Weisfeld-Adams, James D.
;
Edelmann, Lisa
;
Gadi, Inder K.
.
European Journal of Medical Genetics. 55 (2012) 12 - p. 732-736 , 2012
Link:
https://doi.org/10.1016/..
1-15