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Investigation of Nonimmune Hydrops Fetalis: Multidisciplinary Studies Are Necessary for Diagnosis-Review of 94 Cases.
- Published in:
- Pediatric & Developmental Pathology, 1999, v. 2, n. 5, p. 432, doi. 10.1007/s100249900146
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- Publication type:
- Article
Mechanisms involved in cystic fibrosis airway inflammation.
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- Pediatric Pulmonology, 2001, v. 32, n. S23, p. 143, doi. 10.1002/ppul.1950322356
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- Publication type:
- Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
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- Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
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- Publication type:
- Article
Embryonic Stem Cells Generate Airway Epithelial Tissue.
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- American Journal of Respiratory Cell & Molecular Biology, 2005, v. 32, n. 2, p. 87, doi. 10.1165/rcmb.2004-0079RC
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- Publication type:
- Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
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- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
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- Publication type:
- Article
The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 2817, doi. 10.1210/jc.2008-2504
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- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
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- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Publication type:
- Article
Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester.
- Published in:
- 2007
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- Publication type:
- journal article
Epithelial stem cells in airway and lung development and regeneration: seminar of the European Respiratory Society (ERS), Reims, France, April 8, 1999.
- Published in:
- Journal of Gene Medicine, 1999, v. 1, n. 3, p. 231, doi. 10.1002/(SICI)1521-2254(199905/06)1:3<231::AID-JGM36>3.0.CO;2-5
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- Publication type:
- Article
KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome.
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- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2387
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- Publication type:
- Article
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 92, doi. 10.1002/ajmg.c.31360
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- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Publication type:
- Article
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
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- PLoS Biology, 2016, v. 14, n. 3, p. 1, doi. 10.1371/journal.pbio.1002416
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- Publication type:
- Article
Distribution of laminin 5, integrin receptors, and branching morphogenesis during human fetal lung development.
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- Developmental Dynamics, 2002, v. 225, n. 2, p. 176, doi. 10.1002/dvdy.10147
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- Publication type:
- Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
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- Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
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- Publication type:
- Article
Detection of N- myc amplification by FISH in immature areas of fixed neuroblastomas: more efficient than Southern blot/PCR.
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- Journal of Pathology, 2002, v. 198, n. 1, p. 83, doi. 10.1002/path.1182
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- Publication type:
- Article
Glandular-like morphogenesis and secretory activity of human tracheal gland cells in a three-dimensional collagen gel matrix.
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- Journal of Cellular Physiology, 1994, v. 161, n. 3, p. 407, doi. 10.1002/jcp.1041610303
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- Publication type:
- Article
Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study.
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- Arthritis & Rheumatology, 2015, v. 67, n. 11, p. 3027, doi. 10.1002/art.39292
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- Publication type:
- Article
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1275, doi. 10.1002/ajmg.a.36995
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- Publication type:
- Article
Fetal phenotype associated with the 22q11 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2724, doi. 10.1002/ajmg.a.36720
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- Publication type:
- Article
Mechanisms involved in cystic fibrosis airway inflammation.
- Published in:
- Pediatric Pulmonology, 1998, v. 26, n. S23, p. 143, doi. 10.1002/ppul.1950262356
- By:
- Publication type:
- Article