Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

150 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium; Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA. Smith A, et al. Among authors: bulman de. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis.
Wilson K, Duque DR, Murphy MSQ, Hawken S, Pham-Huy A, Kwong J, Deeks SL, Potter BK, Crowcroft NS, Bulman DE, Chakraborty P, Little J. Wilson K, et al. Among authors: bulman de. Hum Vaccin Immunother. 2018 Jun 3;14(6):1378-1391. doi: 10.1080/21645515.2018.1433971. Epub 2018 Feb 26. Hum Vaccin Immunother. 2018. PMID: 29420131 Free PMC article.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: bulman de. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL; FORGE Canada Consortium; Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. Among authors: bulman de. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium; Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Marcadier JL, et al. Among authors: bulman de. Orphanet J Rare Dis. 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98. Orphanet J Rare Dis. 2013. PMID: 23835272 Free PMC article.
150 results