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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (ONLINE)
Journal
Identifier:
E190210
ISSN:
1552-4833
Overview
Overview
Outputs (13)
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A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
Academic Article
Congenital Anomalies Associated With Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
Academic Article
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability
Academic Article
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members
Academic Article
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome
Academic Article
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
Academic Article
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Academic Article
New case of contiguous gene syndrome at chromosome 8p11.2p12
Academic Article
Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes
Academic Article
Progressive spastic paraplegia as a feature of tetrasomy 18p
Academic Article
RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH
Academic Article
X- LINKED MENTAL RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN TWO BROTHERS WITH DUPLICATION Xp22>pter.
Academic Article
X-Linked Mental Retardation and Conjuntival Teleangectasias: Correction of the Previously Reported Karyotype.
Academic Article
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