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Publications by Maria Jesus Ortiz-Ruiz

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

American Journal of Human Genetics

English

Related publications

De Novo Microduplication of CHL1 in a Patient With Non-Syndromic Developmental Phenotypes

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

The HAT4 Gene of Arabidopsis Encodes a Developmental Regulator.

Genes and Development

Developmental Biology

English

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay

Journal of Clinical Investigation

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

European Journal of Human Genetics

English

The Important Function of Mediator Complex in Controlling the Developmental Transitions in Plants

International Journal of Molecular Sciences

Organic Chemistry

Molecular Biology

Theoretical Chemistry

Inorganic Chemistry

Computer Science Applications

English