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1.
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices.
J Genet Couns
; 31(3): 631-640, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34826357
2.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27545680
3.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30214068
4.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29388939
5.
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Hum Mutat
; 38(5): 600-608, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28106320
6.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27513193
7.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23623388
8.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22970919
9.
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Genet Med
; 17(7): 578-86, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356970
10.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23495017
11.
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Pediatr Neurol
; 70: 34-43.e2, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28330790
12.
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Mayo Clin Proc
; 90(3): 366-71, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25659636
13.
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Eur J Hum Genet
; 21(3): 343-6, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22872102
14.
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Eur J Med Genet
; 54(1): 42-9, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-20951845
15.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet
; 42(3): 203-9, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20154674
16.
A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor.
Clin Dysmorphol
; 20(1): 53-54, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20827177
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