Detalhe da pesquisa
1.
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Hum Mol Genet
; 33(6): 520-529, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129107
2.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
3.
Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Prenat Diagn
; 44(3): 364-368, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148030
4.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849228
5.
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
Epilepsia
; 64(6): e127-e134, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014259
6.
[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations]. / Diagnostic d'une maladie inflammatoire rare et sévère de l'intestin chez un nourrisson présentant des ulcérations péri-orificielles.
Ann Pathol
; 42(5): 432-437, 2022 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-34980475
7.
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genet Med
; 23(8): 1574-1577, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927379
8.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
9.
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Hum Mutat
; 39(7): 934-938, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663568
10.
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.
Genet Med
; 23(10): 2003-2004, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34079076
11.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605097
12.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
; 29(9): 1405-1417, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603160
13.
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.
Sci Rep
; 10(1): 6247, 2020 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277129
14.
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Mol Genet Genomic Med
; 8(8): e1277, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32537934
15.
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Orphanet J Rare Dis
; 15(1): 103, 2020 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334637
16.
Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities.
Front Immunol
; 9: 977, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29780393
17.
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.
Eur J Hum Genet
; 30(3): 252-255, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027647
18.
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Ann Clin Transl Neurol
; 7(12): 2538-2540, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107701
19.
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.
Clin Dysmorphol
; 28(2): 66-70, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30762603