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Publications by Cristina Cuoco

Phenotypic and Genetic Characterization of a Patient With a De Novo Interstitial 14q24.1q24.3 Deletion

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Related publications

Bilateral Split Hand and Split Foot Malformation in a Boy With a De Novo Interstitial Deletion of 7q21.3

Journal of Medical Genetics

English

A De Novo 10.1-Mb 3p25 Terminal Deletion Including SETD5 in a Patient With Ptosis and Psychomotor Retardation

Pediatrics and Neonatology

English

Concurrent De Novo Interstitial Deletion of Band 2p22 and Reciprocal Translocation (3;7)(p21;q22).

Journal of Medical Genetics

English

Constitutional De Novo Deletion of the FBXW7 Gene in a Patient With Focal Segmental Glomerulosclerosis and Multiple Primitive Tumors

Scientific Reports

Multidisciplinary

English

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 De Novo Deletion in a Patient With Van Den Ende-Gupta Syndrome

Molecular Syndromology

English

Long-Term Follow-Up of a Patient With 5q31.3 Microdeletion Syndrome and the Smallest De Novo 5q31.2q31.3 Deletion Involving PURA

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Whole‐genome Sequencing Revealed an Interstitial Deletion Encompassing OCRL and SMARCA1 Gene in a Patient With Lowe Syndrome

Molecular genetics & genomic medicine

Molecular Biology

English

Clinical and Molecular Characterization of a Patient With a Combination of a Deletion and a Duplication of 22q13 Using Array CGH

The Application of Clinical Genetics

English

Clinical and Molecular Characterization of a De Novo 19p13.3 Microdeletion

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English