Detalles de la búsqueda
1.
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.
Gene
; 900: 148127, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38181929
2.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38711914
3.
Better than RECIST and Faster than iRECIST: Defining the Immunotherapy Progression Decision Score to Better Manage Progressive Tumors on Immunotherapy.
Clin Cancer Res
; 29(8): 1528-1534, 2023 04 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36719966
4.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
PLoS One
; 16(10): e0258777, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34669720
5.
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Front Genet
; 12: 665174, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34539727
6.
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
Genes (Basel)
; 12(11)2021 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34828426
7.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PLoS One
; 16(10): e0258202, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34614013
8.
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.
J Appl Genet
; 60(1): 49-56, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30284680
9.
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Int J Dermatol
; 58(12): 1439-1443, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31020658
10.
Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene.
Int J Dermatol
; 58(7): e135-e137, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30968397
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