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1.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38054406
2.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37079061
3.
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Int J Mol Sci
; 23(6)2022 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35328505
4.
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Am J Med Genet A
; 167A(12): 3130-8, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26333487
5.
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
Front Neurol
; 14: 1090082, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36824420
6.
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.
Ital J Pediatr
; 48(1): 152, 2022 Aug 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35986401
7.
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
Life (Basel)
; 13(1)2022 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36675969
8.
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.
Ital J Pediatr
; 46(1): 108, 2020 Jul 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-32723361
9.
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.
Epilepsy Behav
; 29(3): 587-8, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24012507
10.
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.
Eur J Paediatr Neurol
; 19(4): 477-83, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25769226
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