Found: 41
Select item for more details and to access through your institution.
Clinical and research innovations in childhood interstitial lung disease (chILD).
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 9, p. 2233, doi. 10.1002/ppul.27025
- By:
- Publication type:
- Article
The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 9, p. 2236, doi. 10.1002/ppul.26568
- By:
- Publication type:
- Article
Noninvasive management of infants with SFTPC pathogenic variants.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 2, p. 488, doi. 10.1002/ppul.26722
- By:
- Publication type:
- Article
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
- Published in:
- Pediatric Pulmonology, 2022, v. 57, n. 5, p. 1325, doi. 10.1002/ppul.25862
- By:
- Publication type:
- Article
Childhood rare lung disease in the 21st century: "‐omics" technology advances accelerating discovery.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1828, doi. 10.1002/ppul.24809
- By:
- Publication type:
- Article
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0655-8
- By:
- Publication type:
- Article
Neuroendocrine Cell Hyperplasia of Infancy. Clinical Score and Comorbidities.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 708, doi. 10.1002/ajmg.a.62553
- By:
- Publication type:
- Article
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2190, doi. 10.1002/ajmg.a.62219
- By:
- Publication type:
- Article
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 544, doi. 10.1002/ajmg.a.61962
- By:
- Publication type:
- Article
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1053, doi. 10.1002/ajmg.a.61518
- By:
- Publication type:
- Article
De Novo 9q Gain in an Infant with Tetralogy of Fallot with Absent Pulmonary Valve: Patient Report and Review of Congenital Heart Disease in 9q Duplication Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2966, doi. 10.1002/ajmg.a.37296
- By:
- Publication type:
- Article
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2013, doi. 10.1002/ajmg.a.36606
- By:
- Publication type:
- Article
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.
- Published in:
- Pediatric Pulmonology, 2008, v. 43, n. 5, p. 443, doi. 10.1002/ppul.20782
- By:
- Publication type:
- Article
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 208, n. 6, p. 709, doi. 10.1164/rccm.202210-2015OC
- By:
- Publication type:
- Article
Single cell multiomics identifies cells and genetic networks underlying alveolar capillary dysplasia.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 208, n. 6, p. E1, doi. 10.1164/rccm.202210-2015oc
- By:
- Publication type:
- Article
Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 8, p. 1042, doi. 10.1164/rccm.202207-1332OC
- By:
- Publication type:
- Article
A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
SMAD4 germline mutations in juvenile polyposis coli.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa138
- By:
- Publication type:
- Article
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 2, p. 605, doi. 10.1007/s00467-022-05616-z
- By:
- Publication type:
- Article
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 1, p. 78, doi. 10.1165/rcmb.2023-0156le
- By:
- Publication type:
- Article
First Steps toward Personalized Therapies for ABCA3 Deficiency.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 4, p. 349, doi. 10.1165/rcmb.2021-0405ED
- By:
- Publication type:
- Article
Functional Genomics of ABCA3 Variants.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 63, n. 4, p. 436, doi. 10.1165/rcmb.2020-0034MA
- By:
- Publication type:
- Article
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2016, v. 55, n. 5, p. 716, doi. 10.1165/rcmb.2016-0008OC
- By:
- Publication type:
- Article
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2014, v. 189, n. 12, p. E1, doi. 10.1164/rccm.201402-0342oc
- By:
- Publication type:
- Article
Genotype--Phenotype Correlations for Infants and Children with ABCA3 Deficiency.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2014, v. 189, n. 12, p. 1538, doi. 10.1164/rccm.201402-0342oc
- By:
- Publication type:
- Article
Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates.
- Published in:
- Neonatal Network, 2018, v. 37, n. 3, p. 169, doi. 10.1891/0730-0832.37.3.169
- By:
- Publication type:
- Article
Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation.
- Published in:
- Pediatric Diabetes, 2010, v. 11, n. 4, p. 286, doi. 10.1111/j.1399-5448.2009.00557.x
- By:
- Publication type:
- Article
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.
- Published in:
- World Journal of Pediatrics, 2018, v. 14, n. 1, p. 52, doi. 10.1007/s12519-017-0109-3
- By:
- Publication type:
- Article
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
- Published in:
- World Journal of Pediatrics, 2016, v. 12, n. 2, p. 190, doi. 10.1007/s12519-015-0047-x
- By:
- Publication type:
- Article
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1298, doi. 10.1002/humu.24014
- By:
- Publication type:
- Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
- By:
- Publication type:
- Article
Women’s Lifelong Exposure to Neighborhood Poverty and Low Birth Weight: A Population-Based Study.
- Published in:
- Maternal & Child Health Journal, 2009, v. 13, n. 3, p. 326, doi. 10.1007/s10995-008-0354-0
- By:
- Publication type:
- Article
Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research.
- Published in:
- Annals of the American Thoracic Society, 2016, v. 13, n. 12, p. S385, doi. 10.1513/AnnalsATS.201605-402OT
- By:
- Publication type:
- Article
ATS Core Curriculum 2016: Part III. Pediatric Pulmonary Medicine.
- Published in:
- 2016
- By:
- Publication type:
- journal article
CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214257
- By:
- Publication type:
- Article
Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
26-OR: Digenic FGFR1/KLB Variants Associated with Endocrine Specific FGF-21 Signaling Defects and Extreme Insulin Resistance.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-26-OR
- By:
- Publication type:
- Article