|
1
|
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
|
Am J Med Genet A
|
2004
|
0.82
|
|
2
|
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
|
Acta Paediatr
|
2006
|
0.80
|
|
3
|
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
|
Clin Dysmorphol
|
2005
|
0.80
|
|
4
|
New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?
|
Am J Med Genet A
|
2003
|
0.78
|
|
5
|
Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital.
|
Ital J Pediatr
|
2009
|
0.78
|
|
6
|
Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
|
Am J Med Genet A
|
2008
|
0.76
|
|
7
|
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
|
Am J Med Genet
|
2002
|
0.76
|
|
8
|
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
|
Eur J Med Genet
|
2008
|
0.76
|
|
9
|
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
|
Eur J Med Genet
|
2013
|
0.75
|
|
10
|
A new patient with Lowry-Wood syndrome with mild phenotype.
|
Am J Med Genet A
|
2003
|
0.75
|