Peter D Turnpenny Selected Research

Parathyroidectomy

1/2010

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

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Peter D Turnpenny Research Topics

Disease

2	Congenital Abnormalities (Deformity) 01/2008 - 10/2007
1	Lissencephaly 11/2022
1	Classical Lissencephalies and Subcortical Band Heterotopias 11/2022
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Intellectual Disability (Idiocy) 01/2021
1	Autistic Disorder (Autism) 01/2021
1	Amniotic Band Syndrome (Amniotic Bands) 01/2020
1	Brain Diseases (Brain Disorder) 01/2018
1	Lung Diseases (Lung Disease) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Perinatal Death 01/2018
1	Diaphragmatic Hernia 04/2017
1	Malformations of Cortical Development 04/2017
1	Hypoglycemia (Reactive Hypoglycemia) 01/2017
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 01/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2012
1	Cardiomegaly (Heart Hypertrophy) 05/2012
1	Hyperparathyroidism 01/2010
1	Acromegaly 01/2010
1	Prolactinoma (Prolactinomas) 01/2010
1	Hyperparathyroidism 2 01/2010
1	Bohring syndrome 10/2007
1	Cleft Lip (Harelip) 10/2007
1	Hypoplastic Left Heart Syndrome 10/2007
1	Hypertelorism 10/2007
1	Exophthalmos (Proptosis) 10/2007
1	Nevus (Nevi) 10/2007
1	Microphthalmos 05/2006
1	Valproic acid antenatal infection 05/2002
1	Anisometropia 05/2002
1	Myopia 05/2002
1	Astigmatism 05/2002
1	Strabismus (Squint) 05/2002

Drug/Important Bio-Agent (IBA)

3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 05/2006
1	TubulinIBA 11/2022
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	Collagen Type III (Type III Collagen)IBA 01/2020
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2018
1	Potassium Channels (Potassium Channel)IBA 01/2018
1	Nonsense Codon (Nonsense Mutation)IBA 04/2017
1	phosphomannomutaseIBA 01/2017
1	Mitochondrial DNA (mtDNA)IBA 11/2012
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 11/2012
1	Calcium-Sensing ReceptorsIBA 01/2010
1	Valproic Acid (Depakote)FDA LinkGeneric 05/2002
1	Anticonvulsants (Antiepileptic Drugs)IBA 05/2002

Therapy/Procedure

1	Critical Care (Surgical Intensive Care) 05/2012
1	Parathyroidectomy 01/2010
1	Norwood Procedures 10/2007
1	Sutures (Suture) 10/2007