Found: 9
Select item for more details and to access through your institution.
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
- By:
- Publication type:
- Article
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372
- By:
- Publication type:
- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
- By:
- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
- By:
- Publication type:
- Article
Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 355, doi. 10.1002/humu.21649
- By:
- Publication type:
- Article
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
- By:
- Publication type:
- Article
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
- By:
- Publication type:
- Article
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
- By:
- Publication type:
- Article
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 11, p. 1858, doi. 10.1111/epi.13560
- By:
- Publication type:
- Article