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Kosuke Izumi

Showing results (1-10 of 104) with videos related to

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Molecular Syndromology|November 22, 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesKosuke Izumi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 27, 2014
Pallister-Killian syndromeKosuke Izumi, Ian D Krantz
Nihon Rinsho. Japanese Journal of Clinical Medicine|October 7, 2006
[Russell-Silver syndrome]Kenjiro Kosaki, Kosuke Izumi, Tomonobu Hasegawa
Human Genetics|March 17, 2023
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteinsKelly E Regan-Fendt, Kosuke Izumi
European Journal of Medical Genetics|August 14, 2014
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxyKosuke Izumi, Sarah Noon, Alisha Wilkens, et al.
Fetal and Pediatric Pathology|April 19, 2007
Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesisKosuke Izumi, Kenneth Lyons Jones, Kenjiro Kosaki, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|July 2, 2014
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndromeKosuke Izumi, Zhe Zhang, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A|July 14, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous returnYukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
Molecular Syndromology|February 6, 2020
Interstitial 4q Deletion Syndrome Including <i>NR3C2</i> Causing PseudohypoaldosteronismAmanda Barone Pritchard, Alyssa Ritter, Hutton M Kearney, et al.
Pediatric Neurology|April 18, 2007
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndromeKosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, et al.
Pageof 11

Showing results (1-10 of 104) with videos related to

Sort By:
Pageof 11
Molecular Syndromology|November 22, 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesKosuke Izumi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 27, 2014
Pallister-Killian syndromeKosuke Izumi, Ian D Krantz
Nihon Rinsho. Japanese Journal of Clinical Medicine|October 7, 2006
[Russell-Silver syndrome]Kenjiro Kosaki, Kosuke Izumi, Tomonobu Hasegawa
Human Genetics|March 17, 2023
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteinsKelly E Regan-Fendt, Kosuke Izumi
European Journal of Medical Genetics|August 14, 2014
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxyKosuke Izumi, Sarah Noon, Alisha Wilkens, et al.
Fetal and Pediatric Pathology|April 19, 2007
Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesisKosuke Izumi, Kenneth Lyons Jones, Kenjiro Kosaki, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|July 2, 2014
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndromeKosuke Izumi, Zhe Zhang, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A|July 14, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous returnYukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
Molecular Syndromology|February 6, 2020
Interstitial 4q Deletion Syndrome Including <i>NR3C2</i> Causing PseudohypoaldosteronismAmanda Barone Pritchard, Alyssa Ritter, Hutton M Kearney, et al.
Pediatric Neurology|April 18, 2007
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndromeKosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, et al.
Pageof 11