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1.
A patient with single coronary artery, bicuspid aortic valve and sinus of Valsalva aneurysm.
BMC Cardiovasc Disord
; 21(1): 153, 2021 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33765934
2.
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeysâ»Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations.
Medicina (Kaunas)
; 55(5)2019 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31096651
3.
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
Case Rep Med
; 2020: 5108052, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655646
4.
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
Case Rep Genet
; 2020: 3256539, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32047678
5.
Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
Mol Omics
; 15(1): 59-66, 2019 02 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30633282
6.
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
Mol Genet Genomic Med
; 7(3): e566, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30693671
7.
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.
J Pediatr Genet
; 7(2): 83-85, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29707410
8.
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
Mol Genet Metab Rep
; 15: 11-14, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30023283
9.
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
Hum Genome Var
; 5: 24, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30181892
10.
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
Hum Genome Var
; 5: 15, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30002862
11.
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.
Mol Genet Genomic Med
; 2018 Apr 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29700987
12.
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Mol Genet Genomic Med
; 6(6): 1229-1235, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30187681
13.
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.
Case Rep Genet
; 2018: 6968395, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29682366
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