scholarly article | Q13442814 |
P356 | DOI | 10.1017/S1047951105002052 |
P8608 | Fatcat ID | release_6mlpy7oqdrfjrih66jmdu6wwwy |
P698 | PubMed publication ID | 16454874 |
P5875 | ResearchGate publication ID | 7319063 |
P2093 | author name string | William Reardon | |
Colin J McMahon | |||
P2860 | cites work | Coarctation of the aorta in Kabuki syndrome | Q24515408 |
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
Congenital heart defects in Kabuki syndrome. | Q34245051 | ||
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome | Q35446968 | ||
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort | Q36078059 | ||
Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. | Q42655430 | ||
A case showing an association between type 1 diabetes mellitus and Kabuki syndrome | Q44363827 | ||
Further delineation of Kabuki syndrome in 48 well-defined new individuals. | Q51933516 | ||
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. | Q51943048 | ||
Hepatic fibrosis in Kabuki syndrome. | Q51944459 | ||
Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. | Q51946739 | ||
Patient with Kabuki syndrome and acute leukemia. | Q51946973 | ||
Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 | ||
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. | Q52058585 | ||
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. | Q52096483 | ||
Dominant inheritance of Kabuki make-up syndrome | Q73893354 | ||
P433 | issue | 1 | |
P304 | page(s) | 30-33 | |
P577 | publication date | 2006-02-01 | |
P1433 | published in | Cardiology in the Young | Q2041555 |
P1476 | title | The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. | |
P478 | volume | 16 |
Q80727938 | A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage |
Q46244392 | An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage |
Q51920938 | Hypoplastic left heart syndrome in patients with Kabuki syndrome. |
Q34910692 | Kabuki Make-up Syndrome - A Case Report with Electromyographic study |
Q34156088 | Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome |
Q51960780 | Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. |
Q35976439 | The strong association of left-side heart anomalies with Kabuki syndrome |
Search more.