case report | Q2782326 |
scholarly article | Q13442814 |
P2093 | author name string | Richard Turnock | |
Sotirios Siminas | |||
Colin Tennant Baillie | |||
P2860 | cites work | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 |
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 | ||
Unmasking Kabuki syndrome | Q34310239 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination | Q38855279 | ||
Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases | Q52044731 | ||
Anorectal anomalies associated with Kabuki make-up syndrome | Q67970838 | ||
Congenital funnel anus in children: associated anomalies, surgical management and outcome | Q81422347 | ||
P433 | issue | 1 | |
P921 | main subject | Kabuki syndrome | Q1538227 |
P304 | page(s) | 54-58 | |
P577 | publication date | 2015-05-28 | |
P1433 | published in | European journal of pediatric surgery reports | Q27725326 |
P1476 | title | Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment | |
P478 | volume | 3 |
Q90512980 | Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms | cites work | P2860 |
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