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Yoshikazu Kuroki

Kyushu University

94

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1502

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A Case of Brachial Artery Thrombosis Caused by Massage of an Occluded Arteriovenous Graft

2021
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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

2020 American Journal of Medical Genetics Part A
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Male with type II autosomal recessive cutis laxa

2008 Clinical Genetics
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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

2005 Brain & Development
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Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy

2003 Journal of Child Neurology
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Premature thelarche in Rubinstein‐Taybi syndrome

2002 American Journal of Medical Genetics
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Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

2000 Clinical Dysmorphology
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Toriello-Carey syndrome with endocardial fibroelastosis.

1999 American Journal of Medical Genetics
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Supernumerary ring chromosome 5 identified by FISH.

1999 American Journal of Medical Genetics
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Apple-peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat.

1999 American Journal of Medical Genetics
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Citations (7)