Bjørn Ivar Haukanes Selected Research

And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation

1/2022

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.

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Bjørn Ivar Haukanes Research Topics

Disease

2	Neoplasms (Cancer) 01/2016 - 02/2010
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 01/2022
1	Microcephaly 01/2022
1	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Gaucher Disease (Gaucher's Disease) 01/2017
1	Ovarian Neoplasms (Ovarian Cancer) 01/2016
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 11/2015
1	Paraneoplastic Syndromes (Paraneoplastic Syndrome) 11/2015
1	Cognitive Dysfunction 09/2014
1	Peroxisomal Disorders (Peroxisomal Disorder) 01/2013
1	Cystic Fibrosis (Mucoviscidosis) 04/2012
1	Diarrhea 04/2012
1	Long Term Adverse Effects 09/2010
1	Inflammation (Inflammations) 09/2010
1	Pain (Aches) 09/2010
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2010
1	Cleft Palate (Palate, Cleft) 01/2007

Drug/Important Bio-Agent (IBA)

2	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 01/2007
2	AntibodiesIBA 11/2015 - 02/2010
1	Protein Isoforms (Isoforms)IBA 01/2022
1	Proliferating Cell Nuclear Antigen (PCNA)IBA 01/2022
1	ChromatinIBA 01/2022
1	Glucosylceramides (Glucocerebrosides)IBA 01/2017
1	4-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA 01/2016
1	Nonsense Codon (Nonsense Mutation)IBA 09/2014
1	pristanic acidIBA 01/2013
1	Coenzyme A (CoA)IBA 01/2013
1	Racemases and Epimerases (Epimerases and Racemases)IBA 01/2013
1	ChloridesIBA 04/2012
1	EndocannabinoidsIBA 09/2010
1	Pharmaceutical PreparationsIBA 09/2010
1	EnzymesIBA 09/2010