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1.
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project.
J Med Genet;
60(3): 247-253, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35595280
2.
Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project.
Hum Mutat;
42(4): 434-444, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33502061
3.
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Crit Care Med;
49(10): 1674-1683, 2021 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33935161
4.
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
J Med Genet;
57(8): 558-566, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32005694
5.
Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
J Clin Immunol;
41(4): 834-836, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33501617
6.
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
BMC Med Genet;
15: 62, 2014 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-24885232
7.
Effectiveness and safety of intraoperative intraperitoneal 5-Fu drug implantation in patients with colorectal cancer: a retrospective cohort study.
J Cancer Res Clin Oncol;
150(2): 92, 2024 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38349419
8.
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.
Front Pediatr;
11: 1091532, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36937983
9.
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Kidney Int Rep;
8(11): 2376-2384, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-38025242
10.
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.
Front Genet;
12: 668326, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34025722
11.
Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Ann Transl Med;
9(9): 766, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34268379
12.
Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
Front Genet;
12: 615072, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34025713
13.
Electroacupuncture improves learning and memory functions in a rat cerebral ischemia/reperfusion injury model through PI3K/Akt signaling pathway activation.
Neural Regen Res;
16(6): 1011-1016, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33269744
14.
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
Mol Genet Genomic Med;
8(3): e1144, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31985178
15.
Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.
Transl Pediatr;
9(5): 653-661, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33209728
16.
Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening.
J Mol Diagn;
22(5): 619-628, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32092542
17.
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
J Mol Diagn;
22(12): 1373-1382, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32961316
18.
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.
Mol Genet Genomic Med;
7(12): e1009, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31637876
19.
Catgut implantation at acupoints increases the expression of glutamate aspartate transporter and glial glutamate transporter-1 in the brain of rats with spasticity after stroke.
Neural Regen Res;
13(6): 1013-1018, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29926828
20.
A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder.
Child Neurol Open;
2(2): 1-6, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-35187197
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