Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes
Coci, Emanuele G, Koehler, Udo, Liehr, Thomas, Stelzner, Armin, Fink, Christian, Langen, Hendrik, Riedel, Joachim
Published in Molecular cytogenetics (09.03.2021)
Published in Molecular cytogenetics (09.03.2021)
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Journal Article
Clinical ultrasonography in loggerhead sea turtles (Caretta caretta): imaging of pathological features
De Majo, M., Macri, F., Masucci, M., Coci, G., Pennisi, M.G.
Published in Veterinární medicína (01.01.2016)
Published in Veterinární medicína (01.01.2016)
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Journal Article
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Coci, Emanuele G, Galesi, Ornella, Morgan, Thomas, Giglio, Sabrina, Ostergaard, Elsebet, Elia, Maurizio
Published in Cytogenetic and genome research (01.05.2023)
Published in Cytogenetic and genome research (01.05.2023)
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Journal Article
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation
Coci, Emanuele G., Gapsys, Vytautas, Shur, Natasha, Shin‐Podskarbi, Yoon, Groot, Bert L., Miller, Kathryn, Vockley, Jerry, Sondheimer, Neal, Ganetzky, Rebecca, Freisinger, Peter
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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Journal Article
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Coci, Emanuele G., Codutti, Luca, Fink, Christian, Bartsch, Sophie, Grüning, Gunnar, Lücke, Thomas, Kurth, Ingo, Riedel, Joachim
Published in Molecular and cellular probes (01.04.2017)
Published in Molecular and cellular probes (01.04.2017)
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Journal Article
Efficacy of oxfendazole and fenbendazole against tortoise (Testudo hermanni) oxyurids
Giannetto, S, Brianti, E, Poglayen, G, Sorgi, C, Capelli, G, Pennisi, M. G, Coci, G
Published in Parasitology research (1987) (01.04.2007)
Published in Parasitology research (1987) (01.04.2007)
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Journal Article
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder
Castiglia, L., Husain, R. A., Marquardt, I., Fink, C., Liehr, T., Serino, D., Elia, M., Coci, E. G.
Published in Journal of intellectual disability research (01.05.2018)
Published in Journal of intellectual disability research (01.05.2018)
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Journal Article
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
Coci, Emanuele G, Auhuber, Andrea, Langenbach, Anna, Mrasek, Kristin, Riedel, Joachim, Leenen, Andreas, Lücke, Thomas, Liehr, Thomas
Published in Cytogenetic and genome research (2017)
Published in Cytogenetic and genome research (2017)
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Journal Article
Development of Novel Efficient SIN Vectors with Improved Safety Features for Wiskott–Aldrich Syndrome Stem Cell Based Gene Therapy
Avedillo Díez, Inés, Zychlinski, Daniela, Coci, Emanuele G, Galla, Melanie, Modlich, Ute, Dewey, Ricardo A, Schwarzer, Adrian, Maetzig, Tobias, Mpofu, Nonsikelelo, Jaeckel, Elmar, Boztug, Kaan, Baum, Christopher, Klein, Christoph, Schambach, Axel
Published in Molecular pharmaceutics (03.10.2011)
Published in Molecular pharmaceutics (03.10.2011)
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Journal Article
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Coci, Emanuele G, Codutti, Luca, Fink, Christian, Bartsch, Sophie, Gruning, Gunnar, Lücke, Thomas, Kurth, Ingo, Riedel, Joachim
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
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
Coci, Emanuele G, Auhuber, Andrea, Langenbach, Anna, Mrasek, Kristin, Riedel, Joachim, Leenen, Andreas, Lücke, Thomas, Liehr, Thomas
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
WITHDRAWN: Assessment of hematopoietic and neurologic pathophysiology of HCLS1-associated protein X-1 deficiency in a Hax1-knockout mouse model
Coci, Emanuele G, Thau-Habermann, Nadine, Maetzig, Tobias, Li, Zhixiong, Klein, Christoph, Petri, Susanne, Schambach, Axel
Published in Experimental hematology (28.10.2014)
Published in Experimental hematology (28.10.2014)
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Journal Article
Transport properties from Charm to Bottom: p suppression, anisotropic flow ν and their correlations to the bulk dynamics
Plumari, S., Coci, G., Das, S.K., Minissale, V., Greco, V.
Published in Nuclear physics. A (01.02.2019)
Published in Nuclear physics. A (01.02.2019)
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Journal Article
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes
Coci, Emanuele G, Koehler, Udo, Liehr, Thomas, Stelzner, Armin, Fink, Christian, Langen, Hendrik, Riedel, Joachim
Published in Molecular cytogenetics (03.02.2016)
Published in Molecular cytogenetics (03.02.2016)
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Journal Article
Impact of Glasma on heavy quark RAA and ν2 in nucleus-nucleus collisions at LHC
Sun, Y., Coci, G., Das, S.K., Plumari, S., Ruggieri, M., Greco, V.
Published in Nuclear physics. A (01.01.2021)
Published in Nuclear physics. A (01.01.2021)
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