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Molecular Syndromology|April 20, 2013
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and MicrocephalyJ A Rosenfeld, K H Kim, B Angle, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Prenatal Diagnosis|March 1, 2000
Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlationsR Wallerstein, M T Yu, R L Neu, et al.
Molecular Psychiatry|June 1, 2016
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypesM N Loviglio, M Leleu, K Männik, et al.
Molecular Syndromology|December 6, 2011
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1A Theisen, J A Rosenfeld, K Shane, et al.
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