Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
出版年份 2020 全文链接
标题
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-05-16
DOI
10.1038/s41431-020-0644-6
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review
- (2018) Oanh Kieu Vo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
- (2018) Cristina Mei et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System
- (2018) Jennifer Baumbusch et al. Journal of Genetic Counseling
- Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice
- (2016) Jean Lillian Paul et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Parents' experiences of living with a child with a long-term condition: a rapid structured review of the literature
- (2013) Joanna Smith et al. HEALTH EXPECTATIONS
- Copy Number Variation: What Is It and What Has It Told Us About Child Psychiatric Disorders?
- (2013) Anita Thapar et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- CNVs conferring risk of autism or schizophrenia affect cognition in controls
- (2013) Hreinn Stefansson et al. NATURE
- Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families
- (2012) M Reiff et al. CLINICAL GENETICS
- “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing
- (2012) Marian Reiff et al. GENETICS IN MEDICINE
- 22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness
- (2012) Nicole Martin et al. Journal of Genetic Counseling
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
- (2011) Erin B. Kaminsky et al. GENETICS IN MEDICINE
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Care for patients with ultra-rare disorders
- (2010) Raoul CM. Hennekam European Journal of Medical Genetics
- Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
- (2009) E.K. Bijlsma et al. European Journal of Medical Genetics
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
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