Detalhe da pesquisa
1.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
2.
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.
Fetal Pediatr Pathol
; 41(1): 149-154, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338564
3.
Renpenning syndrome in a female.
Am J Med Genet A
; 182(3): 498-503, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31840929
4.
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Hum Mutat
; 37(3): 301-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26694085
5.
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
BMC Med Genet
; 17(1): 78, 2016 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27832746
6.
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
Genes (Basel)
; 15(4)2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674395
7.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599849
8.
Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.
Genes (Basel)
; 12(7)2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356069
9.
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.
Am J Med Genet A
; 152A(11): 2784-90, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979189
10.
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
Am J Med Genet A
; 129A(3): 254-60, 2004 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15326624