Detalhe da pesquisa
1.
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
J Med Genet
; 59(1): 46-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257509
2.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213677
3.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276562
4.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542205
5.
JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles.
Nucleic Acids Res
; 44(D1): D110-5, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26531826
6.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530203
7.
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Mol Genet Metab
; 118(1): 21-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26971250
8.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Mol Genet Metab
; 117(1): 42-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647175
9.
JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles.
Nucleic Acids Res
; 42(Database issue): D142-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24194598
10.
Team-based care: A clinical pharmacist and family physicians.
Can Pharm J (Ott)
; 154(4): 242-247, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345316
11.
Usability study of clinical exome analysis software: top lessons learned and recommendations.
J Biomed Inform
; 51: 129-36, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24860971
12.
Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis.
Nucleic Acids Res
; 38(17): 5718-34, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20460467
13.
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Neuroscience
; 384: 152-164, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29852244
14.
Correction to: FLAGS, frequently mutated genes in public exomes.
BMC Med Genomics
; 10(1): 69, 2017 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29187224
15.
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
Cold Spring Harb Mol Case Stud
; 3(1): a001156, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050599
16.
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
J Am Med Inform Assoc
; 23(2): 257-68, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117142
17.
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
Child Neurol Open
; 3: 2329048X16669912, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503617
18.
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Eur J Hum Genet
; 23(10): 1301-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604853
19.
The genotypic and phenotypic spectrum of PIGA deficiency.
Orphanet J Rare Dis
; 10: 23, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25885527
20.
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Orphanet J Rare Dis
; 10: 38, 2015 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25885783