American journal of medical genetics. Part A

Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).

Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).

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