Found: 10
Select item for more details and to access through your institution.
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0692-0
- By:
- Publication type:
- Article
Further confirmation of the MED13L haploinsufficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
- By:
- Publication type:
- Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
- By:
- Publication type:
- Article
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
- By:
- Publication type:
- Article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Discovery of variants unmasked by hemizygous deletions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
- By:
- Publication type:
- Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
- By:
- Publication type:
- Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
- By:
- Publication type:
- Article
Unstable transmission of a familial complex chromosome rearrangement.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2888, doi. 10.1002/ajmg.a.35580
- By:
- Publication type:
- Article
Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 2, p. 178, doi. 10.1177/0883073811416006
- By:
- Publication type:
- Article