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1 . Academic Journal
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
저자
by
Emanuele G. Coci
;
Udo Koehler
;
Thomas Liehr
;
Armin Stelzner
;
Christian Fink
, et al.
소스
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-1 (2021)
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7 .
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
저자
by
Emanuele G. Coci
;
Ornella Galesi
;
Thomas Morgan
;
Sabrina Giglio
;
Elsebet Ostergaard
, et al.
소스
Cytogenetic and Genome Research
. :1-7
Web of Science
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7 .
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
저자
by
Katherine Wesseling Perry
;
Archana Raja
;
Emilie D. Douine
;
Xue Zhong Liu
;
Brent L. Fogel
, et al.
소스
Brain
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7 .
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder
저자
by
Emanuele G. Coci
;
Lucia Castiglia
;
Domenico Serino
;
I. Marquardt
;
Maurizio Elia
, et al.
소스
Journal of Intellectual Disability Research
. 62:359-370
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7 .
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
저자
by
Emanuele G. Coci
;
Andreas Leenen
;
Thomas Lücke
;
Kristin Mrasek
;
Joachim Riedel
, et al.
소스
Neuropediatrics
. 48:S1-S45
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7 .
Novel Homozygous Missense Mutation in ALDH7A1 Causes Neonatal Pyridoxine-Dependent Epilepsy
저자
by
Luca Codutti
;
Thomas Lücke
;
Christian Fink
;
Joachim Riedel
;
Gunnar Gruning
, et al.
소스
Neuropediatrics
. 48:S1-S45
Web of Science
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7 .
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
저자
by
Emanuele G. Coci
;
Ingo Kurth
;
Luca Codutti
;
Joachim Riedel
;
Gunnar Gruning
, et al.
소스
Molecular and Cellular Probes
. 32:18-23
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7 .
Contents Vol. 151, 2017
저자
by
Emanuele G. Coci
;
Patricia C. M. O’Brien
;
Halil Gürhan Karabulut
;
Aylin Okçu Heper
;
Andrea Auhuber
, et al.
소스
Cytogenetic and Genome Research
. 151:I-IV
Open Access (OpenAIRE)
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7 .
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
저자
by
Andrea Auhuber
;
Thomas Liehr
;
Joachim Riedel
;
Kristin Mrasek
;
Thomas Lücke
, et al.
소스
Cytogenetic and Genome Research
. 151:171-178
Web of Science
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7 .
P 366. 7q11.23 Microduplication Syndrome: Neurophysiological and Neuroradiological Insights into a Rare Chromosomal Disorder
저자
by
Ralf Husain
;
Emanuele G. Coci
;
Christian Fink
;
Iris Marquardt
;
Maurizio Elia
, et al.
소스
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics
.
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