Suchergebnisse - "Janin, Alexandre"

PubPharm (57)

1

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort : Confirming its involvement in hypertrophic cardiomyopathy

enthalten in: Clinical genetics | 2024

von Ader, F. | Jedraszak, G. | Janin, A. | +12

2

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences : A Case Report

enthalten in: Genes | 2024

von Ouedraogo, Z. | Janel, C. | Janin, A. | +8

3

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths : Prevalence, Phenotypic Expression, and Prognosis

enthalten in: Circulation. Genomic and precision medicine | 2024

von Hermida, A. | Ader, F. | Millat, G. | +37

4

Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome

enthalten in: Gene | 2024

von Delinière, A. | Jaupart, L. | Janin, A. | +4

5

Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis : the example of the missense mutation APOB c.1468C>T

enthalten in: Clinical chemistry and laboratory medicine | 2023

von Henry, Z. | Janin, A. | Nony, S. | +9

6

Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies

enthalten in: Circulation. Genomic and precision medicine | 2023

von Janin, A. | Gouy, E. | Putoux, A. | +9

7

Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T

enthalten in: Clinical chemistry and laboratory medicine | 2023

von Henry, Z. | Janin, A. | Nony, S. | +9

8

Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant

enthalten in: Circulation. Genomic and precision medicine | 2023

von Delinière, A. | Haddad, C. | Herrera-Siklódy, C. | +8

9

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene : Report of two cases of hereditary spherocytosis

enthalten in: British journal of haematology | 2023

von Lunati-Rozie, A. | Janin, A. | Faubert, E. | +7

10

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing : A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants

enthalten in: Molecular diagnosis & therapy | 2022

von Janin, A. | Perouse de Montclos, T. | Nguyen, K. | +12

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