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B Steinmann Selected Research

autosomal recessive Spondylocostal dysostosis

7/2003A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

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B Steinmann Research Topics

Disease

2Fanconi Syndrome (Syndrome, Fanconi)
11/2007 - 03/2002
2Hypoglycemia (Reactive Hypoglycemia)
03/2002 - 08/2001
1Endometritis
09/2010
1Glycogen Storage Disease (Glycogenosis)
11/2007
1Glycogen Storage Disease Type Ix
11/2007
1Brain Diseases (Brain Disorder)
02/2007
1Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
02/2007
1Marfan Syndrome (Marfan's Syndrome)
01/2005
1autosomal recessive Spondylocostal dysostosis
07/2003
1Congenital contractural arachnodactyly
10/2002
1Nonketotic Hyperglycinemia
04/2002
1Growth Disorders
03/2002
1Congenital Abnormalities (Deformity)
03/2002
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
03/2002
1Hepatomegaly
03/2002
1Seizures (Absence Seizure)
08/2001
1Ketosis
08/2001
1Dental Caries (Decay, Dental)
03/2001
1Spontaneous Fractures (Pathological Fracture)
03/2001
1Osteogenesis Imperfecta (Lobstein Disease)
03/2001
1Skin Neoplasms (Skin Cancer)
03/2001
1Breast Neoplasms (Breast Cancer)
03/2001
1Leg Ulcer
11/2000
1Prolidase Deficiency
11/2000
1Type IV Ehlers-Danlos Syndrome
08/2000
1Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
06/2000

Drug/Important Bio-Agent (IBA)

1gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA
09/2010
1BiotinidaseIBA
11/2007
1Oxidoreductases (Dehydrogenase)IBA
02/2007
1PyridoxalIBA
02/2007
1Fibrillin-1IBA
01/2005
1Proteins (Proteins, Gene)FDA Link
07/2003
1Fibrillin-2IBA
10/2002
1Glycine (Aminoacetic Acid)FDA LinkGeneric
04/2002
1Protons (Proton)IBA
04/2002
1Amino AcidsFDA Link
04/2002
1Galactose (Galactopyranose)FDA LinkGeneric
03/2002
1Glucose (Dextrose)FDA LinkGeneric
03/2002
1GlycogenIBA
03/2002
1Hypoglycemic Agents (Hypoglycemics)IBA
08/2001
1Glycogen Synthase (Synthase I)IBA
08/2001
1Alkaline PhosphataseIBA
03/2001
1CollagenIBA
03/2001
1octylmethoxycinnamate (octyl-methoxycinnamate)FDA LinkGeneric
03/2001
1CosmeticsIBA
03/2001
1CamphorIBA
03/2001
14-Aminobenzoic Acid (4 Aminobenzoic Acid)IBA
03/2001
1oxybenzone (Solbar)FDA Link
03/2001
1avobenzone (parsol 1789)FDA Link
03/2001
1homosalateIBA
03/2001
1Ribonucleases (Ribonuclease)IBA
08/2000
1Collagen Type III (Type III Collagen)IBA
08/2000
1Fibrillar CollagensIBA
06/2000
1Collagen Type V (Type V Collagen)IBA
06/2000

Therapy/Procedure

1Therapeutics
11/2000