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Parkinson's disease and Alzheimer's disease: a Mendelian randomization study.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0721-7
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- Article
Integrated molecular characterization of adult soft tissue sarcoma for therapeutic targets.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0722-6
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- Article
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0723-5
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- Article
Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0734-2
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- Article
Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection.
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- 2018
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- Publication type:
- Case Study
Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0727-1
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- Article
Association of glucocorticoid receptor gene polymorphism and occupational stress with hypertension in desert petroleum workers in Xinjiang, China.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0688-4
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- Article
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.
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- 2018
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- Publication type:
- Case Study
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0730-6
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- Article
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
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- 2018
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- Publication type:
- Case Study
Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0728-0
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- Article
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0726-2
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- Article
Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0718-2
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- Article
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
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- 2018
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- Publication type:
- Case Study
Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0719-1
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- Article
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0716-4
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- Article
Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0715-5
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- Article
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.
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- 2018
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- Publication type:
- Case Study
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0714-6
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- Article
Relationship between transforming growth factor-β1 and type 2 diabetic nephropathy risk in Chinese population.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0717-3
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- Article
Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0710-x
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- Publication type:
- Article
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0711-9
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- Article
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0706-6
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- Article
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0712-8
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- Article
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0709-3
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- Article
ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0708-4
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- Article
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0707-5
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- Article
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.
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- 2018
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- Publication type:
- Case Study
Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0699-1
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- Article
An African perspective on the genetic risk of chronic kidney disease: a systematic review.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0702-x
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- Publication type:
- Article
Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0701-y
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- Publication type:
- Article
Do polymorphisms in protein kinase catalytic subunit alpha-1 gene associated with cancer susceptibility? a meta-analysis and systematic review.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0704-8
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- Article
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0695-5
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- Article
Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0703-9
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- Article
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0693-7
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- Article
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0694-6
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- Article
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0700-z
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- Publication type:
- Article
Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0698-2
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- Publication type:
- Article
Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0696-4
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- Publication type:
- Article
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0697-3
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- Publication type:
- Article
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0692-8
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- Publication type:
- Article
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0687-5
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- Publication type:
- Article
A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0690-x
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- Publication type:
- Article
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0691-9
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- Publication type:
- Article
The estrogen receptor 1 gene affects bone mineral density and osteoporosis treatment efficiency in Slovak postmenopausal women.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0684-8
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- Publication type:
- Article
Muscle-specific regulation of right ventricular transcriptional responses to chronic hypoxia-induced hypertrophy by the muscle ring finger-1 (MuRF1) ubiquitin ligase in mice.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0670-1
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- Article
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.
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- 2018
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- Publication type:
- Case Study
Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0665-y
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- Publication type:
- Article
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.
- Published in:
- 2018
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- Publication type:
- Case Study
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study