Detalhe da pesquisa
1.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321323
2.
[Constitutional diseases of bone: clinical flags]. / Quand penser à une maladie osseuse constitutionnelle ?
Rev Med Suisse
; 19(823): 766-769, 2023 Apr 19.
Artigo
em Francês
| MEDLINE | ID: mdl-37133958
3.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
4.
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
J Hum Genet
; 65(11): 1035-1038, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555312
5.
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
J Inherit Metab Dis
; 44(6): 1503-1504, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264534
6.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism
; 12(1): 69, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702355
7.
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
Genes (Basel)
; 11(4)2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32295219