Detalhe da pesquisa
1.
Difference between SARS-CoV-2, seasonal coronavirus, influenza, and respiratory syncytial virus infection in solid organ transplant recipients.
Transpl Infect Dis
; 25(1): e13998, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477946
2.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
3.
Outcomes of Gastrostomy Tubes in Newborns With Congenital Heart Disease and Comparison of Techniques.
J Surg Res
; 280: 475-485, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063624
4.
Reinfection with SARS-CoV-2 in solid-organ transplant recipients: Incidence density and convalescent immunity prior to reinfection.
Transpl Infect Dis
; 24(3): e13827, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338554
5.
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Brain
; 144(4): 1197-1213, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889941
6.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166
7.
Assessing non-Mendelian inheritance in inherited axonopathies.
Genet Med
; 22(12): 2114-2119, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741968
8.
POLG mutations presenting as Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(2): 213-218, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843307
9.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
10.
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Brain
; 144(7): e64, 2021 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037698
11.
Nationwide management of perforated pediatric appendicitis: Interval versus same-admission appendectomy.
J Pediatr Surg
; 58(4): 651-657, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36641313
12.
Nationwide Outcomes After Thoracoscopic Versus Open Resection of Congenital Pulmonary Airway Malformations in Newborns.
J Laparoendosc Adv Surg Tech A
; 33(9): 897-903, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406288
13.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(6): 640, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457452
14.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(5): 473-481, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367058
15.
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Neuromuscul Disord
; 29(2): 134-137, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642740
16.
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.
Neurol Genet
; 4(6): e282, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30533528