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Phenotype Correlation sentence examples within next generation sequencing

Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients

Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia

Phenotype Correlation sentence examples within whole exome sequencing

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.

Phenotype Correlation sentence examples within 21 hydroxylase deficiency

Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia

POR polymorphisms are associated with 21 hydroxylase deficiency

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Phenotype Correlation sentence examples within Genotype Phenotype Correlation

Utility of genetic testing for prenatal presentations of hypophosphatasia.

Association of TGFB -509C>T promoter polymorphism with primary angle closure glaucoma in a North Indian Punjabi cohort

Phenotype Correlation sentence examples within Clinical Phenotype Correlation

Psychiatric phenotypes associated with hyperprolinemia: A systematic review

HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data

Phenotype Correlation sentence examples within phenotype correlation analysi

Potential Roles of Oral Microbiota in the Pathogenesis of Immunoglobin A Nephropathy

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Phenotype Correlation sentence examples within phenotype correlation study

Genotype-phenotype correlation of the childhood-onset bethlem myopathy in the mediterranean region of Turkey

Modulation of STIM1 by a risk insertion/deletion polymorphism underlying genetics susceptibility to sudden cardiac death originated from coronary artery disease.

Phenotype Correlation sentence examples within phenotype correlation remain

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

Phenotype Correlation sentence examples within phenotype correlation knowledge

New phenotype caused by POMGNT2 mutations

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

Phenotype Correlation sentence examples within phenotype correlation could

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C

Phenotype Correlation sentence examples within phenotype correlation among

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation.

Phenotype Correlation sentence examples within phenotype correlation regarding

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs

Phenotype Correlation sentence examples within phenotype correlation found

Mandibuloacral Dysplasia Type A in Five Tunisian Patients.

Mandibuloacral dysplasia type A in five tunisian patients

Phenotype Correlation sentence examples within phenotype correlation analysis

miR-1262 suppresses gastric cardia adenocarcinoma via targeting oncogene ULK1

Long non-coding RNA LINC01296 acts as a migration and invasion promoter in head and neck squamous cell carcinoma and predicts poor prognosis.

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

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[Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome].

SERPINB5 Genetic Variants rs2289519 and rs2289521 are Significantly Associated with Gallbladder Cancer Risk.

A founder mutation in TCTN2 causes Meckel‐Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

Cytoplasmic MSH2 Related to Genomic Deletions in the MSH2/EPCAM Genes in Colorectal Cancer Patients With Suspected Lynch Syndrome

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in Japan

Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

Single-Cell Phenotypic Analysis and Digital Molecular Detection Linkable by a Hydrogel Bead-Based Platform

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

MECP2-Related Disorders and Epilepsy Phenotypes

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.

Understanding the genetic pathology of Stargardt disease: a review of current findings and challenges

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

Studying Müllerian duct anomalies – from cataloguing phenotypes to discovering causation

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

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[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].

Phenotypic and genotypic spectrum of CTSK variants in a cohort of Twenty-Five Indian patients with Pycnodysostosis.

Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma

Myotonic dystrophy patients: More data about cardiac and neurologic findings would be useful

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy

Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD.

Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.

GRIN2A and GRIN2B and Their Related Phenotypes

The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders

Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

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Phenotype Correlation 表現型相関
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