Publications
Filters: First Letter Of Last Name is C [Clear All Filters]
"
Kabuki syndrome: a new case associated with Becker nevus." Dermatol. Online J.. 2011;17(8):1. Abstract
"
Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. Abstract
"
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 2000;93(3):244-9. Abstract
"
Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
"
Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis." Am. J. Med. Genet.. 1997;71(4):472-4. Abstract
"
Kabuki Syndrome with additional dental findings: a case report." J Dent Child (Chic). 2008;75(2):185-7. Abstract
"
Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
"
New fundus findings in a case of Kabuki syndrome." Eye (Lond). 2009;23(6):1483-5.
"
CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review." Am. J. Med. Genet.. 1997;72(2):205-9. Abstract
"
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency." Clin. Genet.. 1998;53(4):308-12. Abstract
"
Kabuki syndrome: clinical and molecular characteristics." Korean J Pediatr. 2015;58(9):317-24. Abstract
"
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract
"
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)." BMC Ophthalmol. 2014;14:143. Abstract
"
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia." Int Ophthalmol. 2008;28(2):131-4. Abstract
"
Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." J. Pediatr. Endocrinol. Metab.. 2001;14(6):803-5. Abstract
"
Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.
"
Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
"
Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children." Pediatr Radiol. 1991;21(6):428-31. Abstract
"
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract
"
Cutis aplasia as a feature of Kabuki syndrome." Clin. Dysmorphol.. 2006;15(3):179-80. Abstract
"
Peters'-Plus syndrome: report on an unusual case." Pathologica. 1994;86(6):673-5. Abstract
"
Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
"