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Nashabat, Marwan: SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation / Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Bör… , 27 February 2024. - 19 S. : Illustrationen
In: Nature Communications, ISSN 2041-1723. 15(2024), 1, Artikel-ID 1758, Seite 1-19
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Scorrano, Giovanna: A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children / Giovanna Scorrano, MD, Gianluca D'Onofrio, MD, Andrea Accogli, MD, Mariasavina Severino, MD, Rebecca… , December 2023. - 9 S. : Illustrationen
In: Pediatric neurology, ISSN 1873-5150. 149(2023) vom: Dez., Seite 84-92
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Zumbaum-Fischer, Franziska: Die Interdisziplinäre Familienmedizinische Sprechstunde in der Kinderheilkunde - ein integrativer Ansatz für komplex belastete Familien mit einem chronisch kranken Kind / Franziska Zumbaum-Fischer, Mechthild Hartmann, Urania Kotzaeridou, Anne Mondry, Franz Resch, Georg F… , 2023
In: Psychotherapie, Psychosomatik, medizinische Psychologie, ISSN 1439-1058. 73(2023), 12, Seite 510-515
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Richard, Elodie M.: Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss / Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal S… , 7 October 2021. - 11 S.
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Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
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Holtz, Alexander M.: Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling / Alexander M. Holtz, Rachel VanCoillie, Elizabeth A. Vansickle, Deanna Alexis Carere, Kara Withrow, E… , 18 August 2022. - 14 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 10 vom: Okt., Seite 2065-2078
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Marafi, Dana: A reverse genetics and genomics approach to gene paralog function and disease : myokymia and the juxtaparanode / Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill S… , 1 September 2022. - 11 S.
In: The American journal of human genetics, ISSN 1537-6605. 109(2022), 9, Seite 1713-1723
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Tessadori, Federico: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome / Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles,… , April 7, 2022. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 109(2022), 4, Seite 750-758
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Granzow, Martin: Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing : lessons of the bioinformatics pipeline / M. Granzow, N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U.… . - 7 S.
In: Molecular and cellular probes, ISSN 1096-1194. 29(2015), 5, S. 323-329
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Pelletier, Félixe: Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C / Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Ni… , 2021. - 15 S.
In: The journal of clinical endocrinology & metabolism, ISSN 1945-7197. 106(2021), 2, Seite e660-e674
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Salter, Claire G.: Biallelic PI4KA variants cause neurological, intestinal and immunological disease / Claire G. Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber McCartney, Joseph S. Lesli… , August 20, 2021. - 14 S.
In: Brain, ISSN 1460-2156. 144(2021), 12, Seite 3597-3610
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Hoed, Joery den: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction / Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, C… , 28 January 2021. - 11 S.
In: The American journal of human genetics, ISSN 1537-6605. 108(2021), 2 vom: Feb., Seite 346-356
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O'Byrne, James J.: The genotypic and phenotypic spectrum of MTO1 deficiency / James J. O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, … . - 15 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 1, S. 28-42
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Le Duc, Diana: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size / Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, Angelo Harla… , July 20, 2019. - 14 S.
In: Brain, ISSN 1460-2156. 142(2019), 9, Seite 2617-2630
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Demmelmair, Hans: Determinants of plasma docosahexaenoic acid levels and their relationship to neurological and cognitive functions in PKU patients : a double blind randomized supplementation study / Hans Demmelmair, Anita MacDonald, Urania Kotzaeridou, Peter Burgard, Domingo Gonzalez-Lamuno, Elvira… , 2018. - 20 S.
In: Nutrients, ISSN 2072-6643. 10(2018,12) Artikel-Nummer 1944, 20 Seiten
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Iuso, Arcangela: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy / Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarz… , 2019. - 7 S.
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Lenz, Dominic: SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) / Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Bea… , 08 February 2018. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 10, Seite 1255-1265
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Puusepp, Sanna: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency / Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotza… , 17 January 2018. - 13 S.
In: European journal of human genetics, ISSN 1476-5438. 26(2018), 3, Seite 407-419
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Itai, Toshiyuki: De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy / Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Mar… , 2021. - 11 S.
In: Human mutation, ISSN 1098-1004. 42(2021), 1 vom: Jan., Seite 66-76
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Dohrn, Maike F.: Frequent genes in rare diseases : panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies / Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Eri… , 13 September 2017. - 16 S.
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