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Molecular Syndromology
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November 22, 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Kosuke Izumi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 27, 2014
Pallister-Killian syndrome
Kosuke 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 proteins
Kelly E Regan-Fendt, Kosuke Izumi
European Journal of Medical Genetics
|
August 14, 2014
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy
Kosuke 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 pathogenesis
Kosuke 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 syndrome
Kosuke 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 return
Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
Molecular Syndromology
|
February 6, 2020
Interstitial 4q Deletion Syndrome Including <i>NR3C2</i> Causing Pseudohypoaldosteronism
Amanda 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 syndrome
Kosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, et al.
Page
of 11
Search research articles
Search
Showing results (1-10 of 104) with videos related to
Sort By:
Page
of 11
Molecular Syndromology
|
November 22, 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Kosuke Izumi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 27, 2014
Pallister-Killian syndrome
Kosuke 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 proteins
Kelly E Regan-Fendt, Kosuke Izumi
European Journal of Medical Genetics
|
August 14, 2014
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy
Kosuke 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 pathogenesis
Kosuke 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 syndrome
Kosuke 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 return
Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, et al.
Molecular Syndromology
|
February 6, 2020
Interstitial 4q Deletion Syndrome Including <i>NR3C2</i> Causing Pseudohypoaldosteronism
Amanda 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 syndrome
Kosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, et al.
Page
of 11