Found: 23
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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
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
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- Publication type:
- Article
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
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- 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
Functional Genomics of ABCA3 Variants.
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- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 63, n. 4, p. 436, doi. 10.1165/rcmb.2020-0034MA
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- Article
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
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- American Journal of Respiratory Cell & Molecular Biology, 2016, v. 55, n. 5, p. 716, doi. 10.1165/rcmb.2016-0008OC
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- 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
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- Publication type:
- Article
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.
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- Pediatric Pulmonology, 2008, v. 43, n. 5, p. 443, doi. 10.1002/ppul.20782
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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
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
26-OR: Digenic FGFR1/KLB Variants Associated with Endocrine Specific FGF-21 Signaling Defects and Extreme Insulin Resistance.
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- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-26-OR
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- Article
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
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- 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.
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- 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
Precise breakpoint detection in a patient with 9p- syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005348
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- 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
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
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
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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
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
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- Publication type:
- Article
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 544, doi. 10.1002/ajmg.a.61962
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- Article
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.
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- 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
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
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