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1.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Am J Med Genet A;
191(11): 2757-2767, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37596828
2.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat;
41(3): 655-667, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31705726
3.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet;
27(14): 2454-2465, 2018 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29726930
4.
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genet Med;
22(7): 1269-1275, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32366967
5.
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
22(7): 1133-1141, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32296163
6.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
HGG Adv;
5(3): 100288, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38566418
7.
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.
J Pediatr Genet;
10(1): 35-38, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33552636
8.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Mol Genet Metab Rep;
29: 100821, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34820282
9.
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.
J Mol Diagn;
23(10): 1324-1333, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34314880
10.
Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.
Birth Defects Res A Clin Mol Teratol;
82(10): 662-9, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18937341
11.
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Environ Health Perspect;
114(10): 1547-52, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17035141
12.
False positives in multiplex PCR-based next-generation sequencing have unique signatures.
J Mol Diagn;
16(5): 541-549, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25017478
13.
The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.
Clin Lab Med;
31(4): 543-64, viii, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22118736
14.
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.
Birth Defects Res A Clin Mol Teratol;
73(11): 868-75, 2005 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-16237707
15.
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Hum Genet;
117(2-3): 133-42, 2005 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15883837
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