Found: 20
Select item for more details and to access through your institution.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
- By:
- Publication type:
- Article
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 734, doi. 10.1002/pd.6340
- By:
- Publication type:
- Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
- By:
- Publication type:
- Article
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 35, doi. 10.1002/pd.4478
- By:
- Publication type:
- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
- By:
- Publication type:
- Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
- By:
- Publication type:
- Article
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099
- By:
- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
- By:
- Publication type:
- Article
Interaction of Mo(CO)<sub>6</sub> and its derivative fragments with the Cu(001) surface: Influence on the decomposition process.
- Published in:
- International Journal of Quantum Chemistry, 2014, v. 114, n. 23, p. 1630, doi. 10.1002/qua.24744
- By:
- Publication type:
- Article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
- By:
- Publication type:
- Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
- By:
- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
- By:
- Publication type:
- Article
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2325, doi. 10.1002/ajmg.a.40505
- By:
- Publication type:
- Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
- By:
- Publication type:
- Article
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2335, doi. 10.1002/ajmg.a.36619
- By:
- Publication type:
- Article
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
- By:
- Publication type:
- Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
- By:
- Publication type:
- Article