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1.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35904121
2.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33337535
3.
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Mol Vis
; 27: 542-554, 2021.
Article
in English
| MEDLINE | ID: mdl-34566400
4.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Kidney Int
; 91(5): 1243-1255, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28233610
5.
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.
BMC Endocr Disord
; 15: 58, 2015 Oct 19.
Article
in English
| MEDLINE | ID: mdl-26481254
6.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047860
7.
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.
Front Pediatr
; 9: 732836, 2021.
Article
in English
| MEDLINE | ID: mdl-34568242
8.
Genetic counseling during COVID-19 pandemic: Tuscany experience.
Mol Genet Genomic Med
; 8(10): e1433, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32743952
9.
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. / Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante.
Arch Argent Pediatr
; 115(1): e34-e38, 2017 02 01.
Article
in Spanish
| MEDLINE | ID: mdl-28097853
10.
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.
Clin Case Rep
; 3(7): 643-5, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26273461
11.
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.
Hormones (Athens)
; 13(4): 552-60, 2014.
Article
in English
| MEDLINE | ID: mdl-25402377
12.
Estudio dínico y molecular en una familia con displasia ectodermica hipohidrotica autosomica dominante / Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
Arch. argent. pediatr
; 115(1): e34-e38, feb. 2017. ilus
Article
in Spanish
| LILACS, BINACIS | ID: biblio-838328
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