scholarly article | Q13442814 |
P356 | DOI | 10.1002/1096-8628(20000911)94:2<170::AID-AJMG10>3.0.CO;2-2 |
P698 | PubMed publication ID | 10982974 |
P2093 | author name string | P J Willems | |
M W Wessels | |||
J C de Jongste | |||
D Tibboel | |||
M F Niermeijer | |||
J C den Hollander | |||
A S Brooks | |||
J Hoogeboom | |||
M M van Haelst | |||
J J Bongers-Schokking | |||
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 | ||
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management | Q41926163 | ||
Biliary atresia: pathogenesis and treatment | Q44995363 | ||
Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 | ||
The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black. | Q53885108 | ||
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients | Q59829235 | ||
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome | Q69768840 | ||
Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome | Q71949923 | ||
Dominant inheritance of Kabuki make-up syndrome | Q73893354 | ||
Interstitial Dup(1p) with findings of Kabuki make-up syndrome | Q74689345 | ||
P433 | issue | 2 | |
P921 | main subject | Kabuki syndrome | Q1538227 |
P304 | page(s) | 170-173 | |
P577 | publication date | 2000-09-01 | |
P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
P1476 | title | Unexpected life-threatening complications in Kabuki syndrome | |
P478 | volume | 94 |
Q61799956 | Cancer gene mutations in congenital pulmonary airway malformation patients |
Q92631061 | Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report |
Q36425821 | Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation |
Q51937089 | Kabuki make-up syndrome. |
Q44519452 | Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. |
Q57118417 | Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand |
Search more.