Alexander Stegmann
Groningen University Medical Centre
88 papers found
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The 6p25 deletion syndrome: An update on a rare neurocristopathy
Download from tandfonline.comCutaneous clues for diagnosing X-chromosomal disorders
Download from www.researchgate.netAdducted thumbs: A clinical clue to genetic diagnosis
Download from www.researchgate.netMAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
Download from aacrjournals.orgDefective NDUFA9 as a novel cause of neonatally fatal complex I disease.
Download from mediatum.ub.tum.deMYT1L is a Candidate Gene for Intellectual Disability in Patients With 2p25.3 (2pter) Deletions
Download from www.researchgate.netCongenital hydrocephalus in clinical practice: A genetic diagnostic approach
Download from www.researchgate.netMLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
Download from hal.archives-ouvertes.frFourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Download from www.researchgate.netACE- Versus Chymase-Dependent Angiotensin II Generation in Human Coronary Arteries
Download from repub.eur.nlImmunological aspects of fresh and cryopreserved aortic valve transplantation in rats
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