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