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Nicole Philip Selected Research

Lethal congenital contracture syndrome 1

1/2020Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

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Nicole Philip Research Topics

Disease

4DiGeorge Syndrome (Syndrome, DiGeorge)
01/2020 - 11/2011
2Noonan Syndrome (Female Pseudo-Turner Syndrome)
11/2015 - 03/2010
2Intellectual Disability (Idiocy)
02/2015 - 08/2003
2Fraser Syndrome
05/2005 - 06/2003
1Arthrogryposis
01/2020
1Lethal congenital contracture syndrome 1
01/2020
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2020
1Autoimmune Diseases (Autoimmune Disease)
01/2020
1Micrognathism
12/2019
1Channelopathies
09/2018
1Epilepsy (Aura)
06/2018
1Basal Cell Carcinoma (Rodent Ulcer)
10/2017
1Cardiofaciocutaneous syndrome
02/2016
1Brain Diseases (Brain Disorder)
12/2015
1Infantile Epileptic-Dyskinetic Encephalopathy
12/2015
1Congenital Heart Defects (Congenital Heart Defect)
05/2015
1Fibrosarcoma
05/2015
1Coloboma (Colobomas)
03/2015
1Deafness (Deaf Mutism)
03/2015
1Hypertelorism
03/2015
1Cerebrofrontofacial Syndrome
03/2015
1Acute-Phase Reaction
02/2015
1Infections
02/2015
1Lubs X-linked mental retardation syndrome
02/2015
1Autism Spectrum Disorder
08/2014
1Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
04/2014
1Virilism (Virilization)
04/2014
1Multiple Hamartoma Syndrome (Cowden's Disease)
01/2013
1Hamartoma
01/2013
1Neoplasms (Cancer)
01/2013
1Proteus Syndrome
01/2013
1Syndactyly (Polysyndactyly)
05/2005
1Smith-Lemli-Opitz Syndrome
08/2003
1Osteopetrosis
02/2003

Drug/Important Bio-Agent (IBA)

2DNA (Deoxyribonucleic Acid)IBA
11/2017 - 02/2016
2Transcription Factors (Transcription Factor)IBA
05/2015 - 11/2011
2Extracellular Matrix ProteinsIBA
05/2005 - 06/2003
1RNA (Ribonucleic Acid)IBA
01/2020
1beta-cyclodextrin tetradecasulfate (CTDS)IBA
01/2020
1Biological ProductsIBA
01/2020
1Indicators and Reagents (Reagents)IBA
12/2019
1Ion Channels (Ion Channel)IBA
09/2018
1Pharmaceutical PreparationsIBA
06/2018
1Enhancer RNAsIBA
10/2017
1Carrier Proteins (Binding Protein)IBA
12/2015
1Qa-SNARE Proteins (Syntaxin)IBA
12/2015
1Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA
11/2015
1Proteins (Proteins, Gene)FDA Link
11/2015
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
05/2015
1Retinaldehyde (Retinal)IBA
03/2015
1Actins (F Actin)IBA
03/2015
1Immunoglobulin A (IgA)IBA
02/2015
1Secretory Immunoglobulin A (SIgA)IBA
02/2015
1Methyl-CpG-Binding Protein 2IBA
02/2015
1Immunoglobulin G (IgG)IBA
02/2015
1CationsIBA
08/2014
1Dexamethasone (Maxidex)FDA LinkGeneric
04/2014
1Phosphoric Monoester Hydrolases (Phosphatases)IBA
01/2013
1TensinsIBA
01/2013
1Serine (L-Serine)FDA Link
03/2010
1Cadherins (E-Cadherin)IBA
05/2005
1CalciumIBA
05/2005
1CholesterolIBA
08/2003
1Adenosine Triphosphatases (ATPase)IBA
02/2003
1Protons (Proton)IBA
02/2003
1Proton Pumps (Proton Pump)IBA
02/2003

Therapy/Procedure

1Sutures (Suture)
03/2015