Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Am J Med Genet A
; 194(3): e63457, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881147
3.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
4.
Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.
J Craniofac Surg
; 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299863
5.
Evaluation of Missing Prehospital Physiological Values in Injured Children and Adolescents.
J Surg Res
; 283: 305-312, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423480
6.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
7.
Emergency Medical Services Clinicians' Perspectives on Pediatric Non-Transport.
Prehosp Emerg Care
; 27(8): 993-1003, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913148
8.
EasyTBSA as a method for calculating total body surface area burned: a validation study.
Emerg Med J
; 40(4): 279-284, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639224
9.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
10.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502745
11.
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Neuropediatrics
; 51(4): 245-250, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143220
12.
The Development and Implementation of a Transfer Follow-up Program at a Level I Pediatric Trauma Center.
J Trauma Nurs
; 27(5): 262-267, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32890239
13.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
14.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737
15.
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.
Joint Bone Spine
; 89(1): 105270, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534690
16.
Using Social Media for the Prevention of Pediatric Burn Injuries: Pilot Design and Usability Study.
JMIR Form Res
; 5(7): e23242, 2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264194
17.
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation.
Nat Commun
; 11(1): 2243, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32382029
18.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
J Bone Miner Res
; 35(5): 913-919, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886927
19.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057
20.
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.
Eur J Med Genet
; 62(7): 103648, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998997