Found: 18
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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y
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- Publication type:
- Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y
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- Publication type:
- Article
A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 102, doi. 10.1002/ajmg.c.31488
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- Publication type:
- Article
Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 92, doi. 10.1002/ajmg.c.31485
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- Publication type:
- Article
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 237, doi. 10.1002/ajmg.c.31500
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- Publication type:
- Article
Cover Image, Volume 172C, Number 2, June 2016.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. i, doi. 10.1002/ajmg.c.31506
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- Publication type:
- Article
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 229, doi. 10.1002/ajmg.c.31504
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- Publication type:
- Article
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 163, doi. 10.1002/ajmg.c.31495
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- Publication type:
- Article
Characterization of limb differences in children with Cornelia de Lange Syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 155, doi. 10.1002/ajmg.c.31498
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- Publication type:
- Article
Dr. Laird G. Jackson Festschrift.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 72, doi. 10.1002/ajmg.c.31499
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- Publication type:
- Article
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1172, doi. 10.1002/ajmg.a.38161
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- Publication type:
- Article
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 809, doi. 10.1002/ajmg.a.38071
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- Publication type:
- Article
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2523, doi. 10.1002/ajmg.a.37855
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- Publication type:
- Article
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1268, doi. 10.1002/ajmg.a.36976
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- Publication type:
- Article
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1179, doi. 10.1002/ajmg.a.37056
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- Publication type:
- Article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 338, doi. 10.1038/ng.3229
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- Article
A Study of Universal Severe Acute Respiratory Syndrome Coronavirus 2 RNA Testing Among Residents and Staff in a Large Group of Care Homes in South London.
- Published in:
- 2021
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- Publication type:
- journal article
Utilization of Exome Sequencing for Diagnosis and Discovery of Genetic Causes of Sensorineural Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P247, doi. 10.1177/0194599814541629a347
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- Publication type:
- Article