Detalles de la búsqueda
1.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36399134
2.
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Am J Med Genet A
; 191(6): 1565-1569, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36810952
3.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Int J Mol Sci
; 24(23)2023 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38069202
4.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Hum Mol Genet
; 28(13): 2133-2142, 2019 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30806661
5.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31595648
6.
Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports.
J Clin Med
; 13(7)2024 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38610637
7.
Disorder of sex development: a rare case of a boy with an XY karyotype and Magnetic Resonance Imaging findings of hermaphroditism.
JBRA Assist Reprod
; 27(2): 332-336, 2023 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36749813
8.
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Genes (Basel)
; 14(8)2023 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37628640
9.
Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Front Pediatr
; 10: 1055091, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36699297
10.
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.
J Cardiovasc Dev Dis
; 8(11)2021 Nov 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34821712
11.
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
Front Genet
; 12: 668094, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34234810
12.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genet Med
; 12(7): 431-9, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20531206
13.
A case of hereditary dementia: Is it Alzheimer's disease or not?
J Neurol Sci
; 458: 122947, 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38448253
14.
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Eur J Med Genet
; 59(11): 564-568, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27725288
15.
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
BMC Med Genet
; 5: 8, 2004 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-15084222
16.
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Gene
; 515(2): 339-48, 2013 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23262345
Resultados
1 -
16
de 16
1
Próxima >
>>