Detalhe da pesquisa
1.
The Role of Genome Sequencing in Neonatal Intensive Care Units.
Annu Rev Genomics Hum Genet
; 23: 427-448, 2022 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35676073
2.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33217309
3.
Improving child health through Big Data and data science.
Pediatr Res
; 93(2): 342-349, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35974162
4.
Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study.
J Pediatr
; 241: 147-153.e1, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34571022
5.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30414627
6.
A Longitudinal Comparison of Alternatives to Body Mass Index Z-Scores for Children with Very High Body Mass Indexes.
J Pediatr
; 235: 156-162, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33676932
7.
Functional Genomics of ABCA3 Variants.
Am J Respir Cell Mol Biol
; 63(4): 436-443, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32692933
8.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Am J Med Genet A
; 182(5): 1053-1065, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32083401
9.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38156804
10.
Fetal Tracheal Occlusion for Congenital Diaphragmatic Hernia.
N Engl J Med
; 385(2): 177-178, 2021 07 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34106554
11.
Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohort.
Pediatr Res
; 85(3): 329-338, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30643188
12.
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.
J Pediatr
; 194: 158-164.e1, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29198536
13.
Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.
Pediatr Res
; 84(3): 419-425, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29538355
14.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Pediatr Res
; 84(3): 435-441, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29967526
15.
Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.
Am J Perinatol
; 35(5): 494-502, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29183099
16.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat
; 38(11): 1477-1484, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28726266
17.
First Steps toward Personalized Therapies for ABCA3 Deficiency.
Am J Respir Cell Mol Biol
; 66(4): 349-350, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35077664
18.
Changes in medical errors after implementation of a handoff program.
N Engl J Med
; 371(19): 1803-12, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25372088
19.
Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.
J Pediatr
; 184: 157-164.e2, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28215425
20.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26931382