Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clin Genet
; 105(6): 676-682, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356193
3.
Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes.
J Assist Reprod Genet
; 38(9): 2491-2499, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076795
4.
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
J Assist Reprod Genet
; 36(5): 973-978, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850901
5.
Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.
Arch Cardiovasc Dis
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38670870
6.
Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?
Heart Rhythm
; 21(3): 313-320, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956775
7.
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.
Eur J Med Genet
; 66(2): 104689, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549465
8.
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]. / Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
Ann Biol Clin (Paris)
; 79(1): 28-40, 2021 Feb 01.
Artigo
em Francês
| MEDLINE | ID: mdl-33586649
9.
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
Mol Genet Genomic Med
; 8(10): e1428, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770663