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Sarah F Smithson Selected Research

Orthopedic Procedures

3/2015A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

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Sarah F Smithson Research Topics

Disease

1Holoprosencephaly (Arhinencephaly)
01/2022
1Rare Diseases (Rare Disease)
01/2022
1Osteopetrosis
06/2021
1Water Intoxication
06/2021
1Dysosteosclerosis
04/2021
1Epilepsy (Aura)
01/2021
1Channelopathies
01/2021
1Intellectual Disability (Idiocy)
01/2021
1Heart Arrest (Cardiac Arrest)
01/2020
1Acrocephalosyndactylia (Apert Syndrome)
10/2018
1Hearing Loss (Hearing Impairment)
03/2015
1Scoliosis
03/2015
1Jeune syndrome
05/2013
1Polydactyly (Polydactylism)
05/2013
1Bone Marrow Failure Disorders
05/2012
1Pancytopenia
05/2012
1Chromosome Aberrations (Chromosome Abnormalities)
05/2012
1Pyle disease
05/2012
1Avitaminosis (Vitamin Deficiency)
05/2012
1Bohring syndrome
06/2011
1Type E Brachydactyly
12/2010
1Enchondromatosis (Ollier Disease)
12/2010
1type 1 Stickler syndrome
08/2010
1Hypogonadism (Hypergonadotropic Hypogonadism)
02/2007
1Deafness (Deaf Mutism)
02/2007
1Abdominal Obesity
02/2007
1Seizures (Absence Seizure)
02/2007
1Tremor (Tremors)
02/2007
1Talipes Cavus (Pes Cavus)
02/2007
1Megalencephaly
02/2007
1Hypoparathyroidism
02/2007
1X-Linked Mental Retardation (Mental Retardation, X Linked)
02/2007
1Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
10/2006

Drug/Important Bio-Agent (IBA)

2DNA (Deoxyribonucleic Acid)IBA
08/2010 - 02/2007
1Type C PhospholipasesIBA
01/2022
1NucleotidesIBA
01/2022
1DenosumabFDA Link
06/2021
1CalciumIBA
06/2021
1DiureticsIBA
06/2021
1Proteins (Proteins, Gene)FDA Link
04/2021
1Potassium Channels (Potassium Channel)IBA
01/2021
1PotassiumIBA
01/2021
15' Untranslated Regions (5' UTR)IBA
10/2018
1Retinaldehyde (Retinal)IBA
05/2013
1ChymotrypsinFDA Link
05/2012
1Nonsense Codon (Nonsense Mutation)IBA
06/2011
1LigandsIBA
12/2010
1CollagenIBA
08/2010
1Amino AcidsFDA Link
02/2007
1UbiquitinIBA
02/2007
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
02/2007
1GATA3 Transcription FactorIBA
02/2007
1Alanine (L-Alanine)FDA Link
10/2006
1Glycine (Aminoacetic Acid)FDA LinkGeneric
10/2006

Therapy/Procedure

2Stem Cell Transplantation
06/2021 - 05/2012
1Critical Care (Surgical Intensive Care)
01/2020
1Hearing Aids (Hearing Aid)
03/2015
1Osteotomy
03/2015
1Orthopedic Procedures
03/2015