scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.30338 |
P698 | PubMed publication ID | 15523636 |
P50 | author | Louanne Hudgins | Q92012453 |
P2093 | author name string | Kenneth L Jones | |
Marilyn C Jones | |||
Keith K Vaux | |||
Susan Schelley | |||
P2860 | cites work | 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 syndrome: a review study of three hundred patients | Q34632156 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
Kabuki make-up syndrome: a review | Q35057647 | ||
Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 263-264 | |
P577 | publication date | 2005-01-01 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Developmental outcome in Kabuki syndrome. | |
P478 | volume | 132A |
Q36756552 | Kabuki syndrome: diagnostic and treatment considerations |
Q64039632 | Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome |
Q38907092 | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations |
Q55497837 | Neurobehavioral features in individuals with Kabuki syndrome. |
Q57807985 | Speech and language in a genotyped cohort of individuals with Kabuki syndrome |
Q47194658 | Update on 13 Syndromes Affecting Craniofacial and Dental Structures |
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