Detalhe da pesquisa
1.
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
Hum Genet
; 141(8): 1355-1369, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039925
2.
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Am J Med Genet A
; 188(1): 269-271, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472207
3.
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Am J Med Genet A
; 182(1): 195-200, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697451
4.
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection.
J Clin Immunol
; 44(2): 52, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231272
5.
Congenital lumbar hernia-A feature of diabetic embryopathy?
Am J Med Genet A
; 176(11): 2243-2249, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276953
6.
Weight a Minute! Eye Did Not Expect That.
Pediatr Rev
; 44(S1): S52-S54, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777239
7.
Choking and Cyanotic Episodes in a 3-month-old Male.
Pediatr Rev
; 42(Suppl 1): S103-S105, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386376
8.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
9.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Am J Med Genet A
; 167A(2): 271-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394726
10.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
11.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv
; 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352438
12.
Battlefield Triage and Resource Allocation during a Pandemic: Learning from the Past and Adapting for the Future.
Med J (Ft Sam Houst Tex)
; (Per 22-07/08/09): 38-42, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951230
13.
Mupirocin resistance related to increasing mupirocin use in clinical isolates of methicillin-resistant Staphylococcus aureus in a pediatric population.
J Clin Microbiol
; 48(7): 2599-600, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20421433
14.
Uncertainty: An Uncomfortable Companion to Decision-making for Infants.
Pediatrics
; 146(Suppl 1): S13-S17, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737227
15.
Grip and percussion myotonia in myotonic dystrophy type 1.
J Pediatr
; 164(5): 1234-1234.e1, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24560185
16.
Index of suspicion. Case 1: Global developmental delay and seizures in a 34-month-old boy. Case 2: Ecchymoses on legs and refusal to walk in a 16-year-old autistic boy. Case 3: Progressive breathing difficulty in a 5-year-old girl.
Pediatr Rev
; 35(8): 350-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25086166
17.
Mupirocin resistance screening of methicillin-resistant Staphylococcus aureus isolates at Madigan Army Medical Center.
Mil Med
; 173(6): 604-8, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18595427
18.
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
Gene
; 537(2): 279-84, 2014 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24378232