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Raoul C Hennekam Selected Research

Martsolf syndrome

4/2006Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

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Raoul C Hennekam Research Topics

Disease

3Intellectual Disability (Idiocy)
01/2019 - 09/2014
2Neoplasms (Cancer)
10/2021 - 01/2017
2Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
01/2019 - 04/2005
2Scoliosis
09/2014 - 08/2010
1NGLY1 deficiency
03/2021
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
03/2021
1De Lange Syndrome (Cornelia De Lange Syndrome)
05/2020
1Anemia
01/2020
1Polydactyly (Polydactylism)
01/2020
1Greig cephalopolysyndactyly syndrome
01/2020
1Pallister-Hall Syndrome
01/2020
1Arthrogryposis
12/2019
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2018
1Marshall-Smith syndrome
01/2018
1Microcephaly
04/2017
1Progeria (Hutchinson Gilford Syndrome)
11/2016
1Hypersensitivity (Allergy)
01/2015
1Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)
09/2014
1Seizures (Absence Seizure)
09/2014
1Nicolaides Baraitser syndrome
09/2014
1Dandy-Walker Syndrome (Dandy Walker Malformation)
09/2014
1Hypothyroidism
12/2012
1Aortic Aneurysm (Aneurysm, Aortic)
11/2012
1Marfan Syndrome (Marfan's Syndrome)
11/2012
1Loeys-Dietz Syndrome
11/2012
1Myositis Ossificans (Fibrodysplasia Ossificans Progressiva)
06/2012
1Body Integrity Identity Disorder
01/2012
1Pierson syndrome
09/2010
1Facies
08/2010
1Megalencephaly
08/2010
1Chronic Renal Insufficiency
05/2009
1Warburg Sjo Fledelius syndrome
04/2006
1Martsolf syndrome
04/2006
1Neuroblastoma
07/2004

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
03/2021 - 09/2010
2thiouredopyrenetrisulfonateIBA
10/2021 - 01/2017
2Hormones (Hormone)IBA
12/2012 - 04/2006
1CohesinsIBA
05/2020
1polyaminopropylbiguanide (PAPB)IBA
01/2020
1alpha-Fetoproteins (alpha-Fetoprotein)IBA
01/2020
1Amino AcidsFDA Link
01/2019
1Monomeric GTP-Binding ProteinsIBA
01/2018
1Codon (Codons)IBA
01/2018
1CholesterolIBA
04/2017
1prelamin AIBA
11/2016
1Lamin Type A (Lamin A)IBA
11/2016
1Interleukin-2 (IL2)IBA
01/2015
1Retinaldehyde (Retinal)IBA
09/2014
1Adenosine Triphosphatases (ATPase)IBA
09/2014
1glutamyl carboxylase (gamma-glutamyl carboxylase)IBA
09/2014
1Vitamin KFDA Link
09/2014
1Blood Coagulation Factors (Coagulation Factor)IBA
09/2014
1ProlactinIBA
12/2012
1Transforming Growth Factors (Transforming Growth Factor)IBA
11/2012
1Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
06/2012
1Serine (L-Serine)FDA Link
06/2012
1Glycine (Aminoacetic Acid)FDA LinkGeneric
06/2012
1Protein Isoforms (Isoforms)IBA
09/2010
1Laminin (Merosin)IBA
09/2010
1laminin beta2 (S-laminin)IBA
09/2010
1Nonsense Codon (Nonsense Mutation)IBA
08/2010
1NFI Transcription FactorsIBA
08/2010
1MagnesiumIBA
05/2009
1CalciumIBA
04/2006
1Neurotransmitter Agents (Neurotransmitter)IBA
04/2006
1GTPase-Activating Proteins (GTPase-Activating Protein)IBA
04/2006
1CREB-Binding ProteinIBA
04/2005
1Valproic Acid (Depakote)FDA LinkGeneric
07/2004

Therapy/Procedure

1Surgical Amputation (Amputations)
01/2012