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Axel Bohring Selected Research

Opitz trigonocephaly syndrome

10/2007Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

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Axel Bohring Research Topics

Disease

1KBG syndrome
01/2021
1De Lange Syndrome (Cornelia De Lange Syndrome)
01/2021
1Monosomy
12/2016
1Neurofibroma
12/2016
1Neurilemmoma (Schwannoma)
12/2016
1Neoplasms (Cancer)
12/2016
1Nerve Sheath Neoplasms (Nerve Sheath Neoplasm)
12/2016
1Periventricular Nodular Heterotopia
10/2015
1Persistent Fetal Circulation Syndrome
06/2013
1Alveolar capillary dysplasia
06/2013
1Tietz syndrome
03/2013
1Hearing Loss (Hearing Impairment)
03/2013
1Hypopigmentation (Hypomelanosis)
03/2013
1Anhidrotic Ectodermal Dysplasia 1
06/2011
1CHARGE Syndrome
09/2010
1Wiskott-Aldrich Syndrome
05/2010
1Walker-Warburg Syndrome
11/2007
1Genetic Translocation (Chromosomal Translocation)
10/2007
1Opitz trigonocephaly syndrome
10/2007
1Cleft Lip (Harelip)
06/2006
1Exophthalmos (Proptosis)
06/2006
1Failure to Thrive
06/2006
1Hypertelorism
06/2006
1Congenital Abnormalities (Deformity)
06/2006
1Bohring syndrome
06/2006
1Port-Wine Stain (Nevus Flammeus)
06/2006

Drug/Important Bio-Agent (IBA)

1ChromatinIBA
01/2021
1CateninsIBA
12/2016
1FilaminsIBA
10/2015
1DNA (Deoxyribonucleic Acid)IBA
06/2013
1Amino AcidsFDA Link
03/2013
1Biomarkers (Surrogate Marker)IBA
06/2011
1Carrier Proteins (Binding Protein)IBA
09/2010
1DNA HelicasesIBA
09/2010
1Proteins (Proteins, Gene)FDA Link
05/2010
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
11/2007
1Immunoglobulins (Immunoglobulin)IBA
10/2007

Therapy/Procedure

1Sutures (Suture)
06/2006