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OALib Journal期刊
ISSN: 2333-9721
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ISSN Print: 1435-232X

ISSN Online:

主页: https://www.nature.com/jhg

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PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome

A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill–Marchesani syndrome from a Chinese family

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Urea cycle disorders—update

Carrier screening for spinal muscular atrophy with a simple test based on melting analysis

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis

Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic loci

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Genetic distribution analyses and population background explorations of Gansu Yugur and Guizhou Miao groups via InDel markers

NDUFS6 related Leigh syndrome: a case report and review of the literature

Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Genome-wide association study of blood lipids in Indians confirms universality of established variants

Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS8

Investigating the role of genetic counseling in neuromuscular disease considering life events

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population

Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient

Inferring the history of surname Ye based on Y chromosome high-resolution genotyping and sequencing data

A novel de novo frameshift variant in SETD1B causes epilepsy

IRAK2 and TLR10 confer risk of Hashimoto’s disease: a genetic association study based on the Han Chinese population

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Effect of enzyme replacement therapy on the growth of patients with Morquio A

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

The survey of public perception and general knowledge of genomic research and medicine in Japan conducted by the Japan Agency for Medical Research and Development

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Previously undescribed thyroid-specific miRNA sequences in papillary thyroid carcinoma

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease

Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia

Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

Revisiting the potential power of human leukocyte antigen (HLA) genes on relationship testing by massively parallel sequencing-based HLA typing in an extended family

©2008-2020 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705