Elma El Khouri

Paris, France

Last Updated: 09/26/2026

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Found 17 publications

CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.

CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.

Journal: Clinical genetics

Published: September 11, 2023

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.

Journal: iScience

Published: April 04, 2023

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

Journal: eLife

Published: June 22, 2022

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: March 10, 2022

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Journal: Rheumatology (Oxford, England)

Published: January 13, 2022

RNF213-associated urticarial lesions with hypercytokinemia.

RNF213-associated urticarial lesions with hypercytokinemia.

Journal: The Journal of allergy and clinical immunology

Published: November 16, 2021

Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.

Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: March 10, 2021

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.

Journal: Molecular psychiatry

Published: August 19, 2020

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Journal: The Journal of allergy and clinical immunology

Published: September 24, 2019

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

Journal: American journal of human genetics

Published: June 30, 2019

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Journal: The Journal of investigative dermatology

Published: March 05, 2019

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.

Journal: Molecular reproduction and development

Published: May 23, 2018

Showing 1-12 of 17

Last Updated: 09/26/2026