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1.
Multiple myeloma complicated with light chain cast nephropathy with focal amyloidosis: A case report.
Nephrology (Carlton)
; 2024 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38741555
2.
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Am J Hum Genet
; 103(3): 448-455, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30122539
3.
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
J Clin Lab Anal
; 34(2): e23046, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31556165
4.
[Clinical practice guidelines for Duchenne muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(3): 258-262, 2020 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32128741
5.
[Clinical practice guidelines for spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(3): 263-268, 2020 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32128742
6.
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.
Genet Med
; 21(9): 1998-2006, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30828085
7.
Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Med Sci Monit
; 25: 7634-7644, 2019 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31603145
8.
[A case of Antley-Bixler syndrome caused by novel POR mutations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 1025-1027, 2019 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31598952
9.
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
J Hum Genet
; 63(7): 851-855, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29703962
10.
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
Int Heart J
; 59(5): 1059-1068, 2018 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30101859
11.
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
J Hum Genet
; 62(4): 513-516, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28077840
12.
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
J Genet Couns
; 26(1): 72-78, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27422779
13.
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
BMC Med Genet
; 17(1): 77, 2016 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27821076
14.
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Am J Med Genet A
; 170(6): 1613-21, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27028180
15.
Withdrawal: Prospective randomized comparison between upgraded "2C3L" versus PVI approach for catheter ablation of persistent atrial fibrillation: PROMPT-AF trial design.
Pacing Clin Electrophysiol
; 44(9): 1651, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33191522
16.
Rare Mutations in CCDC7 Contribute to Early-Onset Preeclampsia by Inhibiting Trophoblast Migration and Invasion.
J Pers Med
; 14(3)2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38540995
17.
Evaluation of the effectiveness and safety of a novel substrate-based radiofrequency ablation for persistent atrial fibrillation: a prospective, randomised, parallel-controlled, single-blinded study protocol.
BMJ Open
; 14(2): e080539, 2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38417952
18.
Effect of ubiquinol on electrophysiology during high-altitude acclimatization and de-acclimatization: A substudy of the Shigatse CARdiorespiratory fitness (SCARF) randomized clinical trial.
Int J Cardiol
; 401: 131817, 2024 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38307422
19.
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.
Clin Chim Acta
; 538: 94-103, 2023 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36368352
20.
Single-cell RNA sequencing reveals a mechanism underlying the susceptibility of the left atrial appendage to intracardiac thrombogenesis during atrial fibrillation.
Clin Transl Med
; 13(6): e1297, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37278111