Found: 21
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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507
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- Publication type:
- Article
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1240, doi. 10.1038/ejhg.2012.95
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- Publication type:
- Article
Increased LIS1 expression affects human and mouse brain development.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 168, doi. 10.1038/ng.302
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- Publication type:
- Article
Hyperammonemic syndrome after Roux-en-Y gastric bypass.
- Published in:
- Obesity (19307381), 2015, v. 23, n. 4, p. 746, doi. 10.1002/oby.21037
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- Publication type:
- Article
Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 3/4, p. 301, doi. 10.1515/jpem-2011-0456
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- Publication type:
- Article
Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 4, p. 2340, doi. 10.1002/ccr3.4031
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- Publication type:
- Article
Novel <i>Frem1</i>-Related Mouse Phenotypes and Evidence of Genetic Interactions with <i>Gata4</i> and <i>Slit3</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830
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- Publication type:
- Article
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057460
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- Publication type:
- Article
Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.
- Published in:
- 2019
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- Publication type:
- journal article
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2224, doi. 10.1002/ajmg.a.34120
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- Publication type:
- Article
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1597, doi. 10.1002/ajmg.a.34040
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- Publication type:
- Article
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 418, doi. 10.1002/ajmg.a.33827
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- Publication type:
- Article
Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis.
- Published in:
- Pediatric Blood & Cancer, 2009, v. 53, n. 1, p. 100, doi. 10.1002/pbc.22016
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- Publication type:
- Article
Requirement of argininosuccinate lyase for systemic nitric oxide production.
- Published in:
- Nature Medicine, 2011, v. 17, n. 12, p. 1619, doi. 10.1038/nm.2544
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- Publication type:
- Article
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406
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- Publication type:
- Article
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627
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- Publication type:
- Article
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2459, doi. 10.1002/ajmg.a.37176
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- Publication type:
- Article
Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1105, doi. 10.1002/ajmg.a.35790
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- Publication type:
- Article
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2767, doi. 10.1002/ajmg.a.35362
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- Publication type:
- Article
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
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- Muscle & Nerve, 2009, v. 39, n. 3, p. 374, doi. 10.1002/mus.21157
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- Publication type:
- Article
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 1, p. 70, doi. 10.4274/jcrpe.3680
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- Publication type:
- Article