Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
2.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35567594
3.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35470444
4.
Response to Chunquan Cai et al.
Genet Med
; 25(9): 100877, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37272926
5.
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]. / Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
Med Sci (Paris)
; 40(2): 176-185, 2024 Feb.
Artigo
Francês
| MEDLINE | ID: mdl-38411426
6.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38293138
7.
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Eur J Med Genet
; 66(11): 104852, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37758168
8.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37292616
9.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Arthritis Rheumatol
; 72(10): 1689-1693, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32510848
10.
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
J Dermatol Sci
; 112(3): 166-169, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37923657