E-LIB Suche - Ergebnisse für: Weisfeld-Adams, James D.

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

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/..