Found: 35
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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
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- Publication type:
- Article
Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins and Anterior Segment Dysgenesis of the Eye: A Report of a New Association and Review of the Literature.
- Published in:
- Journal of Perinatology, 2001, v. 21, n. 5, p. 327, doi. 10.1038/sj.jp.7200494
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- Publication type:
- Article
Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins and Anterior Segment Dysgenesis of the Eye: A Report of a New Association and Review of the Literature.
- Published in:
- Journal of Perinatology, 2001, v. 21, n. 5, p. 327, doi. 10.1038/sj.jp.7200494
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- Publication type:
- Article
Developmental and Genetic Regulation of Human Surfactant Protein B in vivo.
- Published in:
- Neonatology (16617800), 2008, v. 95, n. 2, p. 117, doi. 10.1159/000153095
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- Publication type:
- Article
Genetic Disorders of Surfactant Proteins.
- Published in:
- Neonatology (16617800), 2007, v. 91, n. 4, p. 311, doi. 10.1159/000101347
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- Publication type:
- Article
Congenital Lymphocytic Choriomeningitis Virus: When to Consider the Diagnosis.
- Published in:
- 2014
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- Publication type:
- Case Study
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
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- 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
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- Publication type:
- Article
Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 137, doi. 10.1002/ajmg.a.35701
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- Publication type:
- Article
Quantification of rare allelic variants from pooled genomic DNA.
- Published in:
- Nature Methods, 2009, v. 6, n. 4, p. 263, doi. 10.1038/nmeth.1307
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- 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
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- Publication type:
- 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
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- Publication type:
- Article
Measuring BMI change among children and adolescents.
- Published in:
- Pediatric Obesity, 2022, v. 17, n. 6, p. 1, doi. 10.1111/ijpo.12889
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- Publication type:
- Article
The Many Roles of Family Members in "Family-Centered Care" -- Part II.
- Published in:
- Pediatric Nursing, 2007, v. 33, n. 1, p. 51
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Resident Experiences With Implementation of the I-PASS Handoff Bundle.
- Published in:
- Journal of Graduate Medical Education, 2017, v. 9, n. 3, p. 313, doi. 10.4300/JGME-D-16-00616.1
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- Publication type:
- Article
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
- Published in:
- 2014
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- 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
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- 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
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- Publication type:
- Article
Complement biosynthesis in human breast-milk macrophages and blood monocytes.
- Published in:
- Immunology, 1982, v. 46, n. 2, p. 429
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- 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
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- 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
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- Publication type:
- Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Publication type:
- Article
Genetic variant characterization in intron 4 of the surfactant protein B gene.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9378
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- Publication type:
- Article
Precise breakpoint detection in a patient with 9p- syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005348
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- Publication type:
- Article
Hyaline Membrane Disease Is Underreported in a Linked Birth--Infant Death Certificate Database.
- Published in:
- American Journal of Public Health, 1998, v. 88, n. 9, p. 1387, doi. 10.2105/AJPH.88.9.1387
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- Publication type:
- Article
Selected Antepartum Medical Complications and Very-Low-Birthweight Infants among Black and White Women.
- Published in:
- American Journal of Public Health, 1994, v. 84, n. 9, p. 1495, doi. 10.2105/AJPH.84.9.1495
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- Publication type:
- 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
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- Publication type:
- Article
A major deletion in the surfactant protein-B gene causing lethal respiratory distress.
- Published in:
- Acta Paediatrica, 2007, v. 96, n. 4, p. 516, doi. 10.1111/j.1651-2227.2006.00188.x
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- Publication type:
- Article
Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.
- Published in:
- 2007
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- Publication type:
- journal article
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
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- Publication type:
- Article
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-106
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- Publication type:
- Article