Grazia M. Mancini

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 10 publications

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Journal: Biological psychiatry

Published: July 18, 2017

Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.

Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.

Journal: Prenatal diagnosis

Published: June 15, 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Journal: American journal of human genetics

Published: August 16, 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Journal: American journal of human genetics

Published: May 04, 2016

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Journal: American journal of human genetics

Published: November 11, 2015

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Journal: Nature neuroscience

Published: March 10, 2014

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Journal: Journal of inherited metabolic disease

Published: February 04, 2014

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

Journal: Clinical genetics

Published: November 26, 2013

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal: Journal of medical genetics

Published: May 07, 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 18, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026