Helen Firth Selected Research

Microcephaly

1/2014

Extreme growth failure is a common presentation of ligase IV deficiency.

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Helen Firth Research Topics

Disease

2	Intellectual Disability (Idiocy) 07/2022 - 11/2006
2	Larsen Syndrome 02/2007 - 04/2004
1	Bone Marrow Failure Disorders 09/2023
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 09/2023
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Infections 01/2020
1	Epilepsy (Aura) 01/2019
1	Hypersensitivity (Allergy) 01/2014
1	Nijmegen Breakage Syndrome 01/2014
1	Microcephaly 01/2014
1	Neoplasms (Cancer) 01/2014
1	Smith-Magenis Syndrome 11/2006
1	Rett Syndrome (Rett's Disorder) 08/2005
1	Aneuploidy (Aneuploid) 11/2004
1	Embryonal Rhabdomyosarcoma 11/2004
1	Spondylocarpotarsal synostosis 04/2004
1	Atelosteogenesis Type 3 04/2004

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 07/2022 - 11/2004
1	Retinaldehyde (Retinal)IBA 09/2023
1	NucleotidesIBA 01/2022
1	Immunoglobulins (Immunoglobulin)IBA 01/2020
1	Ligases (Synthetase)IBA 01/2014
1	FilaminsIBA 02/2007
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/2006
1	NetrinsIBA 08/2005
1	Codon (Codons)IBA 04/2004

Therapy/Procedure

1	Ligation 01/2019