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Niu Li Selected Research

Cobblestone Lissencephaly

11/2020Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.

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Niu Li Research Topics

Disease

2Epilepsy (Aura)
01/2021 - 06/2020
1Pseudohypoparathyroidism
03/2022
1Progressive Osseous Heteroplasia
03/2022
1Pseudopseudohypoparathyroidism
03/2022
1Fanconi Anemia (Fanconi's Anemia)
01/2022
1Pontocerebellar Hypoplasia Type 6
01/2022
1Brain Diseases (Brain Disorder)
01/2022
1Osteopetrosis
11/2021
1Retinitis Pigmentosa (Pigmentary Retinopathy)
10/2021
1Hallux Valgus
12/2020
1Intellectual Disability (Idiocy)
11/2020
1Cobblestone Lissencephaly
11/2020
1Periventricular Nodular Heterotopia
11/2020
1Seizures (Absence Seizure)
11/2020
1Fetal Growth Retardation (Intrauterine Growth Retardation)
10/2020
1SHORT syndrome
10/2020
1Thyroid Diseases (Thyroid Disease)
10/2020
1Carcinoma (Carcinomatosis)
11/2019
1Metaphyseal Anadysplasia 1
11/2019
1Hypopituitarism (Sheehan's Syndrome)
12/2018
1Infections
11/2018
1Inguinal Hernia (Direct Inguinal Hernia)
01/2018
1Tuberous Sclerosis (Bourneville's Disease)
03/2017
1type 2 Syndactyly
01/2017
1Blindness (Hysterical Blindness)
06/2016
1Growth Disorders
06/2016
1Bilateral Hearing Loss
06/2016
1Acidosis
04/2016
1Pseudohypoaldosteronism
04/2016
1Metabolic Diseases (Metabolic Disease)
04/2016
1Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
04/2016
1Vomiting
04/2016
1Hyponatremia
04/2016
1Hyperkalemia
04/2016
1Anosmia
02/2016
1Inborn Genetic Diseases (Disease, Hereditary)
02/2016
1Idiopathic Hypogonadotropic Hypogonadism
02/2016
1Kallmann Syndrome (Kallmann's Syndrome)
02/2016
1Hypogonadism (Hypergonadotropic Hypogonadism)
02/2016
1Neoplasms (Cancer)
02/2014
1Hepatocellular Carcinoma (Hepatoma)
02/2014
1Testicular Neoplasms (Testicular Cancer)
02/2014

Drug/Important Bio-Agent (IBA)

2Nonsense Codon (Nonsense Mutation)IBA
10/2020 - 01/2017
15-phenylpent-4-enyl-1-hydroperoxideIBA
03/2022
1DNA (Deoxyribonucleic Acid)IBA
01/2022
1Arginine-tRNA LigaseIBA
01/2022
1GTP Phosphohydrolases (GTPases)IBA
10/2021
1Proteins (Proteins, Gene)FDA Link
10/2021
1Ion Channels (Ion Channel)IBA
01/2021
1Hydroxybutyrate Dehydrogenase (3 Hydroxybutyrate Dehydrogenase)IBA
12/2020
1MannosyltransferasesIBA
11/2020
1Cadherins (E-Cadherin)IBA
11/2020
1Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA
06/2020
1Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA
11/2019
1Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA
11/2019
1Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA
11/2019
1Matrix Metalloproteinase 13IBA
11/2019
1Transcription Factors (Transcription Factor)IBA
12/2018
1CateninsIBA
12/2018
1Immunoglobulin E (IgE)IBA
11/2018
1Hormones (Hormone)IBA
01/2018
1trans-sodium crocetinate (crocetin)IBA
03/2017
1MineralocorticoidsIBA
04/2016
1Cytochrome P-450 CYP11B2 (CYP11B2)IBA
04/2016
1Immunoglobulin D (IgD)IBA
02/2016
1Growth Hormone (Somatotropin)IBA
02/2016
1Gonadotropin-Releasing Hormone (GnRH)FDA Link
02/2016
1Dual-Specificity PhosphatasesIBA
02/2014
1atelocollagenIBA
02/2014
1AntigensIBA
02/2014
1Small Interfering RNA (siRNA)IBA
02/2014

Therapy/Procedure

1Hematopoietic Stem Cell Transplantation
11/2021
1Cardiopulmonary Bypass (Heart-Lung Bypass)
11/2018
1Telescopes
06/2016