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Function Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesCell-to-cell stochastic variation in gene expression is a complex genetic trait.Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Mosaicism in von Hippel-Lindau disease: an event important to recognize.Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expressionTowards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsClinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesHow to Define Pathogenicity, Health, and Disease?Epigenetic transgenerational toxicology and germ cell disease.Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genomics of Immune Diseases and New Therapies.Weighted Protein Interaction Network Analysis of Frontotemporal Dementia.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial Lecture.Genetic rodent models of brain disorders: Perspectives on experimental approaches and therapeutic strategies.Genetic backgrounds and hidden trait complexity in natural populations.A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.Narrowing critical regions and determining penetrance for selected 18q- phenotypes.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Penetrance and expressivity in the molecular age.
@ast
Penetrance and expressivity in the molecular age.
@en
type
label
Penetrance and expressivity in the molecular age.
@ast
Penetrance and expressivity in the molecular age.
@en
prefLabel
Penetrance and expressivity in the molecular age.
@ast
Penetrance and expressivity in the molecular age.
@en
P2860
P1433
P1476
Penetrance and expressivity in the molecular age.
@en
P2093
Joël Zlotogora
P2860
P304
P356
10.1097/01.GIM.0000086478.87623.69
P407
P577
2003-09-01T00:00:00Z
P6179
1004641418