Kamran Moradkhani

Nantes, France

Last Updated: 09/26/2026

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Found 20 publications

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 16, 2022

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Journal: Clinical genetics

Published: September 21, 2021

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

Journal: European journal of medical genetics

Published: June 05, 2020

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Journal: American journal of human genetics

Published: September 23, 2019

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Journal: Molecular genetics & genomic medicine

Published: June 27, 2019

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Journal: Prenatal diagnosis

Published: March 11, 2019

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

Journal: American journal of medical genetics. Part A

Published: November 22, 2018

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Journal: Prenatal diagnosis

Published: November 19, 2018

Morphokinetic parameters in chromosomal translocation carriers undergoing preimplantation genetic testing.

Morphokinetic parameters in chromosomal translocation carriers undergoing preimplantation genetic testing.

Journal: Reproductive biomedicine online

Published: January 03, 2018

Pitfalls in the biological diagnosis of common hemoglobin disorders.

Pitfalls in the biological diagnosis of common hemoglobin disorders.

Journal: Annales de biologie clinique

Published: October 23, 2015

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Journal: Nucleic acids research

Published: October 19, 2013

Showing 1-12 of 20

Last Updated: 09/26/2026