Nicolas Gruchy
Caen, 14000, France
Last Updated: 09/26/2026
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Found 47 publications
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B).
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: February 16, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
Journal: European journal of human genetics : EJHG
Published: November 27, 2025
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.
Journal: Communications medicine
Published: September 16, 2025
Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 22, 2025
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Journal: International journal of molecular sciences
Published: September 23, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Journal: Prenatal diagnosis
Published: October 19, 2023
3q29 duplications: A cohort of 46 patients and a literature review.
Journal: American journal of medical genetics. Part A
Published: September 20, 2023
MiR-4270 acts as a tumor suppressor by directly targeting Bcl-xL in human osteosarcoma cells.
Journal: Frontiers in oncology
Published: May 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Journal: Research square
Published: April 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Journal: Scientific reports
Published: February 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Journal: Frontiers in genetics
Published: November 16, 2022
Last Updated: 09/26/2026