Výsledky vyhledávání - "Anna Langenbach"

Unbalanced Translocation Affecting the Long Arms of Chromosome 10 and 22 Causes Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Autor: Emanuele G. Coci, Andreas Leenen, Thomas Lücke, Kristin Mrasek, Joachim Riedel, Anna Langenbach, Andrea Auhuber, Thomas Liehr

Publikováno v: Neuropediatrics. 48:S1-S45

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3621b16f95edc4b31b8f0e8794adb9ca
https://doi.org/10.1055/s-0037-1602963

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Contents Vol. 151, 2017

Autor: Emanuele G. Coci, Patricia C. M. O’Brien, Halil Gürhan Karabulut, Aylin Okçu Heper, Andrea Auhuber, Cecilia Surace, Valeria Orlando, Viola Alesi, Eva B. Athanasopoulou, Elena Rossi, Silvia Genovese, Claus Steinlein, Juan A. Marchal, Edivaldo Herculano Corrêa de Oliveira, Hatice Ilgın Ruhi, Fabrizia Restaldi, Lisa De Lorenzi, Antonio Novelli, Joachim Riedel, Hatice Sanli, Stefania Bonacina, Analía Del Valle Garnero, Tiago Marafiga Degrandi, Nihal Kundakci, Sara Loddo, Pelin Ertop, Satz Mengensatzproduktion, Maria Cristina Digilio, Antonio Sánchez, Alessandra Iannuzzi, I. Romero-Fernández, Malcolm A. Ferguson-Smith, Bruno Dallapiccola, Pietro Parma, Ceren D. Durmaz, Andreas Leenen, María Arroyo, Thomas Liehr, Thomas Lücke, Seçil Vural, Elisa Pisaneschi, Rafael Kretschmer, Maria Lisa Dentici, Druckerei Stückle, Michail Rovatsos, Kristin Mrasek, Michael Schmid, Daniele Pompili, Anna Langenbach, Ricardo José Gunski

Publikováno v: Cytogenetic and Genome Research. 151:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2210feb14029e9d07d703ff749ea3936
https://doi.org/10.1159/000478840

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Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Autor: Andrea Auhuber, Thomas Liehr, Joachim Riedel, Kristin Mrasek, Thomas Lücke, Anna Langenbach, Emanuele G. Coci, Andreas Leenen

Publikováno v: Cytogenetic and Genome Research. 151:171-178

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7442e2738d3125f1628adaabce86e84e
https://doi.org/10.1159/000471501

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Unbalanced translocation affecting the long arms of chromosomes 10 and 22 causes complex syndromes with very severe neuro-developmental delay, speech impairment, autistic behavior and epilepsy

Autor: Andrea Auhuber, Joachim Riedel, Thomas Lücke, Anna Langenbach, Kristin Mrasek, Andreas Leenen, Emanuele G. Coci, Thomas Liehr

Publikováno v: European Journal of Paediatric Neurology. 21:e72

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a9ed28fa6f2a5e59b95bc286d0cf952
https://doi.org/10.1016/j.ejpn.2017.04.1176

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