المؤلفون: Schulte C; Department of Otolaryngology, University of Tübingen, Tübingen, Germany., Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, Pfister M

المصدر: Human mutation [Hum Mutat] 2005 Jun; Vol. 25 (6), pp. 595.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Activin Receptors, Type II/*genetics , Antigens, CD/*genetics , Gene Frequency/*genetics , Mutation/*genetics , Receptors, Cell Surface/*genetics , Telangiectasia, Hereditary Hemorrhagic/*genetics, DNA Mutational Analysis ; Endoglin ; Exons/genetics ; Genetic Testing ; Germany ; Humans ; Introns/genetics ; Pedigree ; Polymorphism, Restriction Fragment Length

المؤلفون: Tóth T; Medical and Health Science Center, Department of Otolaryngology, University of Debrecen, Hungary., Kupka S, Haack B, Riemann K, Braun S, Fazakas F, Zenner HP, Muszbek L, Blin N, Pfister M, Sziklai I

المصدر: Human mutation [Hum Mutat] 2004 Jun; Vol. 23 (6), pp. 631-2.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Connexins/*genetics , Hearing Loss/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Connexin 26 ; DNA Mutational Analysis ; Female ; Gene Frequency ; Humans ; Hungary ; Infant ; Male ; Middle Aged ; Pedigree

المؤلفون: Donaudy F; Telethon Institute of Genetics and Medicine, Dipartimento di Patologia Generale, Seconda Università di Napoli, Naples, Italy., Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A

المصدر: American journal of human genetics [Am J Hum Genet] 2004 Apr; Vol. 74 (4), pp. 770-6. Date of Electronic Publication: 2004 Mar 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*genetics , Cochlea/*metabolism , Deafness/*genetics , Genes, Dominant/*genetics , Mutation/*genetics , Myosin Heavy Chains/*genetics, Amino Acid Sequence ; Animals ; Animals, Newborn ; Female ; Humans ; Immunohistochemistry ; Male ; Mice ; Molecular Sequence Data ; Myosin Heavy Chains/chemistry ; Myosin Type II ; Pedigree ; RNA, Messenger/genetics ; RNA, Messenger/metabolism

المؤلفون: Kupka S; Department of Anthropology and Human Genetics, University of Tübingen, Germany. susankupka@yahoo.de, Tóth T, Wróbel M, Zeissler U, Szyfter W, Szyfter K, Niedzielska G, Bal J, Zenner HP, Sziklai I, Blin N, Pfister M

المصدر: Human mutation [Hum Mutat] 2002 Mar; Vol. 19 (3), pp. 308-9.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Alanine/*genetics , Genetic Predisposition to Disease/*epidemiology , Glycine/*genetics , Hearing Loss, Sensorineural/*epidemiology , Hearing Loss, Sensorineural/*genetics , Mutation/*genetics , RNA, Ribosomal/*genetics, Adult ; Aged ; Amino Acid Substitution/genetics ; Child ; Child, Preschool ; Female ; Genetic Testing ; Germany/epidemiology ; Humans ; Hungary/epidemiology ; Infant ; Male ; Middle Aged ; Pedigree ; Poland/epidemiology