𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Craniosynostoses: Phenotypic/molecular correlations

✍ Scribed by Cohen, M. Michael


Book ID
102703757
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
549 KB
Volume
56
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Genotype, molecular phenotype, and cogni
✍ Kaufmann, Walter E.; Abrams, Michael T.; Chen, Wilma; Reiss, Allan L. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 2 views

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw

Distal 5q deletion syndrome: Phenotypic
✍ Schafer, Irwin A. ;Robin, Nathaniel H. ;Posch, James J. ;Clark, Brian A. ;Izumo, πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 166 KB πŸ‘ 2 views

We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventr