Deborah Bartholdi Selected Research

Deborah Bartholdi Research Topics

1	Neoplasms (Cancer) 11/2023
1	Cataract (Cataracts) 11/2023
1	Singleton Merten syndrome 04/2022
1	CHARGE Syndrome 01/2018
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Megalencephaly 11/2016
1	Seizures (Absence Seizure) 11/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Dermatitis 05/2014
1	Atopic Dermatitis (Atopic Eczema) 05/2014
1	Intellectual Disability (Idiocy) 05/2014
1	Microcephaly 05/2014
1	Partial Epilepsies (Epilepsy, Partial) 01/2014
1	Infantile Spasms (West Syndrome) 01/2014
1	Muscle Hypotonia (Hypotonia) 08/2013
1	Hypotonia-Cystinuria Syndrome 08/2013
1	Bohring syndrome 06/2011
1	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia) 12/2009
1	Noonan-Like Syndrome With Loose Anagen Hair 09/2009
1	Alopecia (Baldness) 05/2008
1	Gomez Lopez Hernandez syndrome 05/2008
1	Syndactyly (Polysyndactyly) 03/2008
1	Telecanthus 03/2008
1	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 04/2005

2	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2016 - 01/2014
2	Proteins (Proteins, Gene)FDA Link 12/2009 - 09/2009
1	Anaphase-Promoting Complex-Cyclosome Apc1 SubunitIBA 11/2023
1	ruxolitinibIBA 04/2022
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2018
1	Caspase 2IBA 11/2016
1	HMGB1 Protein (HMG1)IBA 05/2014
1	ChromatinIBA 05/2014
1	Glutamic Acid (Glutamate)FDA Link 01/2014
1	N-Methylaspartate (NMDA)IBA 01/2014
1	Ion Channels (Ion Channel)IBA 01/2014
1	Growth Hormone (Somatotropin)IBA 08/2013
1	Nonsense Codon (Nonsense Mutation)IBA 06/2011
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 09/2009
1	CyclinsIBA 03/2008
1	CREB-Binding ProteinIBA 04/2005

1	Anesthesia 05/2008