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The Function and Roles of ADAMTS-7 in Inflammatory DiseasesShort and tall stature: a new paradigm emergesWhole exome sequencing to identify genetic causes of short statureGenetic evaluation of short stature.Are copy number variants associated with adolescent idiopathic scoliosis?Copy number variants in short children born small for gestational age.An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.Genomic imbalances in pediatric patients with chronic kidney disease.Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarrayA Track Record on SHOX: From Basic Research to Complex Models and TherapyUnusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Genomic islands of divergence linked to ecotypic variation in sockeye salmon.Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.All humans, great or small, short or tall.Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Application of Chromosomal Microarray for Evaluation of Idiopathic Short Stature in Asian Indian Children: A Pilot Study.Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
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P2860
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 25 September 2013
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Copy number variants in patients with short stature.
@en
Copy number variants in patients with short stature.
@nl
type
label
Copy number variants in patients with short stature.
@en
Copy number variants in patients with short stature.
@nl
prefLabel
Copy number variants in patients with short stature.
@en
Copy number variants in patients with short stature.
@nl
P2093
P2860
P50
P356
P1476
Copy number variants in patients with short stature
@en
P2093
Antoinet C J Gijsbers
Claudia A L Ruivenkamp
Hedi L Claahsen-van de Grinten
Hermine A van Duyvenvoorde
Jeffrey Baron
Julian C Lui
Marcel Karperien
Marie J E Walenkamp
Mariëtte J V Hoffer
P2860
P2888
P304
P356
10.1038/EJHG.2013.203
P577
2013-09-25T00:00:00Z