Search details
1.
Unidirectional trans-Atlantic gene flow and a mixed spawning area shape the genetic connectivity of Atlantic bluefin tuna.
Mol Ecol
; 33(1): e17188, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37921120
2.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29330779
3.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29234995
4.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Hum Mol Genet
; 24(20): 5845-54, 2015 Oct 15.
Article
in English
| MEDLINE | ID: mdl-26220973
5.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27106216
6.
Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 39(3): 341-353, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26689403
7.
Newborn screening for homocystinuria.
Cochrane Database Syst Rev
; (10): CD008840, 2015 Oct 01.
Article
in English
| MEDLINE | ID: mdl-26423208
8.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Am J Hum Genet
; 88(2): 216-25, 2011 Feb 11.
Article
in English
| MEDLINE | ID: mdl-21310276
9.
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Am J Med Genet A
; 164A(4): 907-14, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24459067
10.
Implications of alternative spawning for bluefin tuna remain unclear.
Proc Natl Acad Sci U S A
; 113(30): E4259-60, 2016 07 26.
Article
in English
| MEDLINE | ID: mdl-27436890
11.
Newborn screening for homocystinuria.
Cochrane Database Syst Rev
; (8): CD008840, 2013 Aug 01.
Article
in English
| MEDLINE | ID: mdl-23908001
12.
Nursery origin of yellowfin tuna in the western Atlantic Ocean: significance of Caribbean Sea and trans-Atlantic migrants.
Sci Rep
; 13(1): 16277, 2023 09 28.
Article
in English
| MEDLINE | ID: mdl-37770551
13.
Multiple F-Box Proteins Collectively Regulate Cell Development and Pathogenesis in the Human Pathogen Cryptococcus neoformans.
J Fungi (Basel)
; 8(12)2022 Nov 29.
Article
in English
| MEDLINE | ID: mdl-36547592
14.
Low levels of sibship encourage use of larvae in western Atlantic bluefin tuna abundance estimation by close-kin mark-recapture.
Sci Rep
; 12(1): 18606, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36329078
15.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
Biochim Biophys Acta
; 1802(7-8): 639-48, 2010.
Article
in English
| MEDLINE | ID: mdl-20362666
16.
Vitamin B12 deficiency and phenylketonuria.
Mol Genet Metab
; 104 Suppl: S52-4, 2011.
Article
in English
| MEDLINE | ID: mdl-21824796
17.
Newborn screening for homocystinuria.
Cochrane Database Syst Rev
; (8): CD008840, 2011 Aug 10.
Article
in English
| MEDLINE | ID: mdl-21833972
18.
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
EMBO Mol Med
; 13(12): e14397, 2021 12 07.
Article
in English
| MEDLINE | ID: mdl-34750991
19.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20052767
20.
The preparation of certified calibration solutions for azaspiracid-1, -2, and -3, potent marine biotoxins found in shellfish.
Anal Bioanal Chem
; 398(5): 2243-52, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20827466