Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
about
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesUltra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeRubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.Broad Thumb-Hallux Syndrome: A Diagnosis Made on Clinical FindingsCircumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young AdolescentVaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines.Lysine Acetylation and Deacetylation in Brain Development and NeuropathiesFrom Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.“Gestalt diagnosis” for children with suspected genetic syndromes.Rubinstein-Taybi syndrome - a window into follicular lymphoma biology.Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome.Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis.Septate Uterus in a Girl with Rubinstein-Taybi Syndrome.
P2860
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P2860
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@ast
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@en
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@nl
type
label
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@ast
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@en
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@nl
prefLabel
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@ast
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@en
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@nl
P2093
P2860
P50
P3181
P1476
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
@en
P2093
Cristina Gervasini
Francesca Maria Paola Manzoni
Francesca Menni
Lidia Pezzani
P2860
P2888
P3181
P356
10.1186/S13052-015-0110-1
P407
P5008
P577
2015-01-20T00:00:00Z
P5875
P6179
1013086657