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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case Pfeifer, Mateja. - Aachen : Universitätsbibliothek der RWTH Aachen, 2024
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Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch Enthalten in Medizinische Genetik Bd. 36, 2024, Nr. 2: 139-140. 2 S.
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Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature Enthalten in Molecular syndromology Bd. 9, 2019, Nr. 6: 287-294
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Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases Enthalten in Geburtshilfe und Frauenheilkunde Bd. 77, 2017, Nr. 05: 495-507
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Hereditary Tumors Weinheim : Wiley-VCH, 2009, 1., Auflage, neue Ausg.
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Genetic causes of mental retardation Enthalten in Wiener medizinische Wochenschrift Bd. 155, Nr. 11-12, date:06.2005: 258-267
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Genetic counselling Enthalten in Wiener medizinische Wochenschrift Bd. 155, Nr. 11-12, date:06.2005: 249-257
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Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization Enthalten in Human genetics Bd. 108, Nr. 2, date:2.2001: 98-104
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Pigmentary mosaicism in hypomelanosis of Ito Enthalten in Human genetics Bd. 103, Nr. 4, date:11.1998: 441-449
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Polyploidies in abortion material decrease with maternal age Enthalten in Human genetics Bd. 91, Nr. 6, date:7.1993: 563-566
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