Publications
Filters: First Letter Of Last Name is B [Clear All Filters]
Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
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Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
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Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe." J. Pediatr.. 1984;105(5):849-50.
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[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]." Klin Padiatr. 1986;198(1):65-8. Abstract
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Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
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No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
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Kabuki syndrome revisited." J. Hum. Genet.. 2012;57(4):223-7. Abstract
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Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
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An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
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Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
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[Kabuki syndrome, a congenital syndrome with multiple anomalies]." Ned Tijdschr Tandheelkd. 2006;113(12):516-9. Abstract
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Kabuki syndrome and sex chromosomal anomalies: is it really an association?" Fertil. Steril.. 2009;91(5):e6.
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Pilomatricoma Associated with Kabuki Syndrome." Pediatric Dermatology. 2016.
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Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
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Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
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A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
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Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
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Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
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Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
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Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract
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