Found: 24
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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25844-5
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- Publication type:
- Article
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.
- Published in:
- BMC Cardiovascular Disorders, 2014, v. 14, n. 1, p. 140, doi. 10.1186/1471-2261-14-140
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- Article
Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.
- Published in:
- 2014
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- Publication type:
- journal article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Publication type:
- Article
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 729, doi. 10.1038/ejhg.2014.190
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- Publication type:
- Article
Whole-genome sequencing in health care.
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- European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Whole-genome sequencing in health care.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1325, doi. 10.1038/ejhg.2009.52
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- Publication type:
- Article
Pheochromocytoma Masked by Mutation in the TH Gene.
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- Clinical Chemistry, 2016, v. 62, n. 7, p. 924, doi. 10.1373/clinchem.2015.248443
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- Publication type:
- Article
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
- Published in:
- Human Reproduction, 2012, v. 27, n. 2, p. 615, doi. 10.1093/humrep/der421
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- Publication type:
- Article
How can the genetic risks of embryo donation be minimized?
- Published in:
- Human Reproduction, 2004, v. 19, n. 8, p. 1685, doi. 10.1093/humrep/deh328
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- Publication type:
- Article
Quantitative PCR technique for the identification of microrearrangements of the AZFc region.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 6, p. 241, doi. 10.1007/s10815-006-9055-z
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- Publication type:
- Article
Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel.
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- Annals of Noninvasive Electrocardiology, 2011, v. 16, n. 2, p. 213, doi. 10.1111/j.1542-474X.2011.00419.x
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- Publication type:
- Article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
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- Publication type:
- Article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
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- Publication type:
- Article
Prenatal Diagnosis of a Fetal Abdominal Eventration: A Rare Congenital Abdominal Wall Defect.
- Published in:
- Fetal Diagnosis & Therapy, 2008, v. 23, n. 2, p. 117, doi. 10.1159/000111590
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- Publication type:
- Article
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48287-0
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- Publication type:
- Article
Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
- Published in:
- PLoS Pathogens, 2019, v. 15, n. 12, p. N.PAG, doi. 10.1371/journal.ppat.1008168
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- Publication type:
- Article
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene ( GLA) in a patient affected with Fabry disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.41
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- Publication type:
- Article
Two new families with hereditary minimal change disease.
- Published in:
- 2013
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- Publication type:
- Case Study
Two new families with hereditary minimal change disease.
- Published in:
- 2013
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- Publication type:
- journal article
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 105, doi. 10.1186/1471-2350-13-105
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- Publication type:
- Article