Emerging microdeletion and microduplication syndromes; the counseling paradigm
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference18 articles.
1. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals;Bijlsma;Eur. J. Med. Genet.,2009
2. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is a short stature gene;Buysse;Eur. J. Med. Genet.,2009
3. Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome;De Ravel;Eur. J. Med. Genet.,2009
4. Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome;De Ravel;Eur. J. Med. Genet.,2009
5. Announcing “chromosomal imbalance letter”;Devriendt;Eur. J. Med. Genet.,2005
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1. Genomic imbalances defining novel intellectual disability associated loci;Orphanet Journal of Rare Diseases;2019-07-05
2. Next Generation Sequencing in Dysmorphology;Clinical Applications for Next-Generation Sequencing;2016
3. 22q11.2 Microduplication Syndrome With Congenital Aural Atresia;Otology & Neurotology;2012-06
4. Discovery of variants unmasked by hemizygous deletions;European Journal of Human Genetics;2012-01-18
5. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child;European Journal of Medical Genetics;2010-11
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