Cornelia De Lange Syndrome
Last Posted: Sep 16, 2021
- Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Porras Antonio R et al. The Lancet. Digital health 2021
- Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
- Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B et al. Clinical genetics 2019 95(2) 221-230
- Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas Stefan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan
- Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline Antonie D et al. Nature reviews. Genetics 2018 Jul
- Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.
Meshram Girish Gulab et al. Medical archives (Sarajevo, Bosnia and Herzegovina) 2018 Oct 72(4) 297-299
- Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
January Kathleen et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 Jun 172(2) 237-45
- Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos Feliciano J et al. European journal of human genetics : EJHG 2015 Oct 23(10)
- Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
Cacioppo Cara N et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 May
- Cornelia de Lange syndrome
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