Verfügbarkeit: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

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Titel:	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
Von:	Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra
Person:	Buchert, Rebecca Verfasser aut Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou
Hauptverfassende:	Buchert, Rebecca (VerfasserIn), Nesbitt, Addie I. (VerfasserIn), Tawamie, Hasan (VerfasserIn), Krantz, Ian D. (VerfasserIn), Medne, Livija (VerfasserIn), Helbig, Ingo (VerfasserIn), Matalon, Dena R. (VerfasserIn), Reis, Andre (VerfasserIn), Santani, Avni (VerfasserIn), Sticht, Heinrich (VerfasserIn), Jamra, Rami Abou (VerfasserIn)
Format:	Elektronisch E-Book
Sprache:	Englisch
Veröffentlicht:	Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016
Schlagworte:	Microcephaly Hearing loss Hypotonia NGS
Online-Zugang:	https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931 http://d-nb.info/112328475X/34 https://open.fau.de/handle/openfau/8093
Beschreibung:	Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0509-9>
Beschreibung:	Online-Ressource
Format:	Langzeitarchivierung gewährleistet, LZA

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Datensatz im Suchindex

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author_facet	Buchert, Rebecca Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou
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spelling	Buchert, Rebecca Verfasser aut SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0509-9> Langzeitarchivierung gewährleistet, LZA Microcephaly Hearing loss Hypotonia NGS Nesbitt, Addie I. Verfasser aut Tawamie, Hasan Verfasser aut Krantz, Ian D. Verfasser aut Medne, Livija Verfasser aut Helbig, Ingo Verfasser aut Matalon, Dena R. Verfasser aut Reis, Andre Verfasser aut Santani, Avni Verfasser aut Sticht, Heinrich Verfasser aut Jamra, Rami Abou Verfasser aut https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931 Resolving-System kostenfrei Volltext http://d-nb.info/112328475X/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://open.fau.de/handle/openfau/8093 Verlag kostenfrei Volltext
spellingShingle	Buchert, Rebecca Nesbitt, Addie I. Tawamie, Hasan Krantz, Ian D. Medne, Livija Helbig, Ingo Matalon, Dena R. Reis, Andre Santani, Avni Sticht, Heinrich Jamra, Rami Abou SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
title	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
title_auth	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
title_exact_search	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
title_full	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra
title_fullStr	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra
title_full_unstemmed	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra
title_short	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
title_sort	spata5 mutations cause a distinct autosomal recessive phenotype of intellectual disability hypotonia and hearing loss
url	https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931 http://d-nb.info/112328475X/34 https://open.fau.de/handle/openfau/8093
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