Frederique Bena-Sloan

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 28 publications

A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon.

A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon.

Journal: BMC pediatrics
Published: December 19, 2025

Immunodeficiency and Lymphoma in Jacobsen Syndrome.

Immunodeficiency and Lymphoma in Jacobsen Syndrome.

Journal: Journal of investigational allergology & clinical immunology
Published: January 14, 2022

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.

Journal: Haematologica
Published: April 09, 2021

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Journal: Clinical genetics
Published: March 31, 2021

Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre.

Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre.

Journal: Swiss medical weekly
Published: February 12, 2021

Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Journal: Human genomics
Published: January 25, 2021

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.

Journal: Stem cell research
Published: July 07, 2020

Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs.

Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs.

Journal: Stem cell research
Published: June 29, 2020

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes.

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes.

Journal: Cancers
Published: February 06, 2020

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Journal: Human genomics
Published: December 03, 2019

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.

Journal: Stem cell research
Published: July 25, 2019

MECP2 duplication syndrome in a patient from Cameroon.

MECP2 duplication syndrome in a patient from Cameroon.

Journal: American journal of medical genetics. Part A
Published: May 22, 2019
Showing 1-12 of 28

Last Updated: 09/26/2026