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In vitro characteristics of the lipid-filled interstitial cell associated with postnatal lung growth: Evidence for fibroblast heterogeneity.
- Published in:
- Journal of Cellular Physiology, 1984, v. 118, n. 2, p. 113, doi. 10.1002/jcp.1041180203
- By:
- Publication type:
- Article
Plasma lecithin: cholesterol acyltransferase and plasma lipolytic activity in preterm infants given total parenteral nutrition with 10% or 20% Intralipid.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Human mammary gland function at the onset of lactation: medium-chain fatty acid synthesis.
- Published in:
- Lipids, 1992, v. 27, n. 11, p. 908, doi. 10.1007/BF02535871
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- Publication type:
- Article
Hydrolysis of triglycerides in the isolated perfused rat lung.
- Published in:
- Lipids, 1982, v. 17, n. 10, p. 696, doi. 10.1007/BF02534654
- By:
- Publication type:
- Article
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03322-7
- By:
- Publication type:
- Article
A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities.
- Published in:
- Movement Disorders, 2013, v. 28, n. 14, p. 1937, doi. 10.1002/mds.25703
- By:
- Publication type:
- Article
Recurrent systemic bacterial infections in homozygous C2 deficiency.
- Published in:
- Pediatric Allergy & Immunology, 1990, v. 1, n. 1, p. 46, doi. 10.1111/j.1399-3038.1990.tb00008.x
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- Publication type:
- Article
Local vs central institutional review boards for multicenter studies.
- Published in:
- 2003
- By:
- Publication type:
- commentary
Local vs Central Institutional Review Boards for Multicenter Studies—Reply.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Problematic variation in local institutional review of a multicenter genetic epidemiology study.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Uptake of blood triglyceride by various tissues.
- Published in:
- Lipids, 1972, v. 7, n. 8, p. 497, doi. 10.1007/BF02533015
- By:
- Publication type:
- Article
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The utility of exome sequencing for fetal pleural effusions.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genomic analysis of partial 21q monosomies with variable phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 235, doi. 10.1038/ejhg.2010.150
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- Publication type:
- Article
Cachexia of malignancy. Potential role of insulin in nutritional management.
- Published in:
- Cancer (0008543X), 1979, v. 43, n. S5, p. 2070, doi. 10.1002/1097-0142(197905)43:5+<2070::AID-CNCR2820430715>3.0.CO;2-C
- By:
- Publication type:
- Article
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.
- Published in:
- Current Protocols, 2022, v. 2, n. 9, p. 1, doi. 10.1002/cpz1.530
- By:
- Publication type:
- Article
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 4, p. 373, doi. 10.1002/pd.1674
- By:
- Publication type:
- Article
Effect of Smoking a Cigarette on the Density Dependence of Maximal Expiratory Flow.
- Published in:
- Respiration, 1982, v. 43, n. 4, p. 258, doi. 10.1159/000194492
- By:
- Publication type:
- Article
Airways Response to Inhaled Tobacco Smoke: Time Course, Dose Dependence and Effect of Volume History.
- Published in:
- Respiration, 1981, v. 41, n. 2, p. 96, doi. 10.1159/000194365
- By:
- Publication type:
- Article
Lysolecithinase in Fish Muscle.
- Published in:
- Journal of Food Science (Wiley-Blackwell), 1967, v. 32, n. 2, p. 179, doi. 10.1111/j.1365-2621.1967.tb01287.x
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- Publication type:
- Article
Fatty Acid Uptake and Esterification by Fish Muscle.
- Published in:
- Journal of Food Science (Wiley-Blackwell), 1966, v. 31, n. 2, p. 146, doi. 10.1111/j.1365-2621.1966.tb00469.x
- By:
- Publication type:
- Article
Increase in Tracheal Glycoprotein Synthesis with Estrogen Administration.
- Published in:
- Proceedings of the Society for Experimental Biology & Medicine, 1977, v. 155, n. 1, p. 115, doi. 10.3181/00379727-155-39756
- By:
- Publication type:
- Article
OMIM.org: leveraging knowledge across phenotype–gene relationships.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. D1, p. D1038, doi. 10.1093/nar/gky1151
- By:
- Publication type:
- Article
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. D1, p. D789, doi. 10.1093/nar/gku1205
- By:
- Publication type:
- Article
Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism.
- Published in:
- Neonatology (16617800), 2012, v. 102, n. 3, p. 203, doi. 10.1159/000339567
- By:
- Publication type:
- Article
Atopic disease and milk fatty acid composition.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Lipase-secreting acinar cell carcinoma of the pancreas with polyarthropathy. A light and electron microscopic, histochemical, and biochemical study.
- Published in:
- Cancer (0008543X), 1974, v. 33, n. 4, p. 1002, doi. 10.1002/1097-0142(197404)33:4<1002::AID-CNCR2820330415>3.0.CO;2-R
- By:
- Publication type:
- Article
GENETIC TESTING FOR INTELLECTUAL DISABILITY.
- Published in:
- Contemporary Pediatrics, 2013, v. 30, n. 6, p. 21
- By:
- Publication type:
- Article
Hydroxocobalamin dose escalation improves metabolic control in cblC.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 728, doi. 10.1007/s10545-009-1257-y
- By:
- Publication type:
- Article
The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 89, doi. 10.1023/A:1024048118294
- By:
- Publication type:
- Article
Online Mendelian Inheritance In Man (OMIM).
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G
- By:
- Publication type:
- Article
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7
- By:
- Publication type:
- Article
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
- Published in:
- Human Mutation, 1992, v. 1, n. 6, p. 501, doi. 10.1002/humu.1380010608
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- Publication type:
- Article
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
- Published in:
- Bioinformatics, 2014, v. 30, n. 22, p. 3215, doi. 10.1093/bioinformatics/btu508
- By:
- Publication type:
- Article
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
McKusick's Online Mendelian Inheritance in Man (OMIM®).
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. suppl_1, p. D793, doi. 10.1093/nar/gkn665
- By:
- Publication type:
- Article
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d514
- By:
- Publication type:
- Article
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 1, p. 52, doi. 10.1093/nar/30.1.52
- By:
- Publication type:
- Article
Fatty acid and positional selectivities of gastric lipase from premature human infants: in vitro studies.
- Published in:
- Lipids, 1994, v. 29, n. 6, p. 433, doi. 10.1007/BF02537313
- By:
- Publication type:
- Article
Bile salt stimulated lipase: Comparative studies in ferret milk and lactating mammary gland.
- Published in:
- 1993
- By:
- Publication type:
- Correction notice
Bile salt stimulated lipase: Comparative studies in ferret milk and lactating mammary gland.
- Published in:
- Lipids, 1992, v. 27, n. 11, p. 917, doi. 10.1007/BF02535873
- By:
- Publication type:
- Article
Human milk in disease: Lipid Composition.
- Published in:
- Lipids, 1992, v. 27, n. 11, p. 848, doi. 10.1007/BF02535863
- By:
- Publication type:
- Article
Stereospecificity of premature human infant lingual lipase.
- Published in:
- Lipids, 1982, v. 17, n. 8, p. 570, doi. 10.1007/BF02535386
- By:
- Publication type:
- Article
Cover, Volume 43, Issue 6.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. i, doi. 10.1002/humu.24401
- By:
- Publication type:
- Article
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 659, doi. 10.1002/humu.24373
- By:
- Publication type:
- Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
- By:
- Publication type:
- Article
The impact of GeneMatcher on international data sharing and collaboration.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 668, doi. 10.1002/humu.24350
- By:
- Publication type:
- Article
'Matching' consent to purpose: The example of the Matchmaker Exchange.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1281, doi. 10.1002/humu.23278
- By:
- Publication type:
- Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
- By:
- Publication type:
- Article
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 928, doi. 10.1002/humu.22844
- By:
- Publication type:
- Article