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Shino Shimada Selected Research

Kallmann Syndrome (Kallmann's Syndrome)

9/2012A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

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Shino Shimada Research Topics

Disease

2Epilepsy (Aura)
10/2015 - 05/2013
1Congenital Disorders of Glycosylation
07/2022
1Microcephaly
01/2019
1Leukoencephalopathies
11/2015
1Brain Diseases (Brain Disorder)
10/2015
1Febrile Seizures (Febrile Seizure)
10/2015
1Generalized Epilepsy
10/2015
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
10/2015
1Nonketotic Hyperglycinemia
10/2015
1Pelizaeus-Merzbacher Disease
06/2014
1Anodontia (Hypodontia)
04/2014
1Hypogonadism (Hypergonadotropic Hypogonadism)
04/2014
1Neurologic Manifestations (Neurological Manifestations)
03/2014
1Cherubism
12/2013
1Seizures (Absence Seizure)
12/2013
1Reinfection
05/2013
1Intellectual Disability (Idiocy)
05/2013
1Rett Syndrome (Rett's Disorder)
05/2013
1Hereditary Spherocytosis
09/2012
1Kallmann Syndrome (Kallmann's Syndrome)
09/2012
1Neurodegenerative Diseases (Neurodegenerative Disease)
07/2012

Drug/Important Bio-Agent (IBA)

1glucosidase IIBA
07/2022
1cysteinyl-tRNA synthetaseIBA
01/2019
1Peptide Initiation Factors (Initiation Factor)IBA
11/2015
1Voltage-Gated Sodium ChannelsIBA
10/2015
1Glycine (Aminoacetic Acid)FDA LinkGeneric
10/2015
1Proteins (Proteins, Gene)FDA Link
06/2014
1Hormones (Hormone)IBA
04/2014
1N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA
03/2014
1Amino AcidsFDA Link
12/2013
1NucleotidesIBA
12/2013
1Anticonvulsants (Antiepileptic Drugs)IBA
12/2013
1Clorazepate Dipotassium (Tranxene)FDA LinkGeneric
12/2013
1Methyl-CpG-Binding Protein 2IBA
05/2013
1AnkyrinsIBA
09/2012
1Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA
09/2012
1Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
07/2012

Therapy/Procedure

1Vagus Nerve Stimulation
12/2013