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1 . Academic Journal
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
저자
by
Mainardi, P Cerruti
;
Perfumo, C
;
Calì, A
;
Coucourde, G
;
Pastore, G
, et al.
소스
Journal of Medical Genetics
. Mar 01, 2001 38(3):151-158
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7 . Academic Journal
The first three mosaic cri du chat syndrome patients with two rearranged cell lines
저자
by
PERFUMO, C
;
MAINARDI, P CERRUTI
;
CALÌ, A
;
COUCOURDE, G
;
ZARA, F
, et al.
소스
Journal of Medical Genetics
. Dec 01, 2000 37(12):967-972
Full Text (BMJ Journals)
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7 . Periodical
Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients.
저자
by
Bernardini, L
;
Gianaroli, L
;
Fortini, D
;
Conte, N
;
Magli, C
, et al.
소스
Human Reproduction; October 2000, Vol. 15 Issue: 10 p2165-2172, 8p
Full Text (OUP)
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Scopus
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7 .
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
저자
by
Michela Malacarne
;
Marina Grasso
;
Mauro Pierluigi
;
Giovanni Corsello
;
V. Consiglio
, et al.
소스
American Journal of Medical Genetics Part A
. :1427-1433
Web of Science
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7 .
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
저자
by
Michela Malacarne
;
Simona Cavani
;
Maria Piccione
;
Ettore Piro
;
Giovanni Corsello
, et al.
소스
Journal of Applied Genetics
. 53:285-288
Full Text (Springer)
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7 .
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
저자
by
Michela Malacarne
;
Roberto Ciccone
;
Ettore Piro
;
Giovanni Corsello
;
Orsetta Zuffardi
, et al.
소스
European Journal of Medical Genetics
. 55:238-244
Full Text (Clinical Key)
Web of Science
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7 .
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
저자
by
Maria Piccione
;
Michela Malacarne
;
Giovanni Corsello
;
Mauro Pierluigi
;
Davide Vecchio
, et al.
소스
American Journal of Medical Genetics Part A
. 155:3054-3059
Web of Science
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7 .
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
저자
by
Fabio Corsolini
;
Roberta Bottega
;
Federico Verzegnassi
;
Adriana Borriello
;
Elena Nicchia
, et al.
소스
Open Access (OpenAIRE)
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7 .
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
저자
by
Chiara Viaggi
;
Maria Piccione
;
Roberta Antona
;
R. Morreale Bubella
;
Michela Malacarne
, et al.
소스
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7 .
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
저자
by
Simona Cavani
;
Marco Fichera
;
Patrizia Salatiello
;
Giovanni Corsello
;
Mauro Pierluigi
, et al.
소스
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