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1 . Academic Journal
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
저자
by
Maike F. Dohrn
;
Guney Bademci
;
Adriana P. Rebelo
;
Médéric Jeanne
;
Nicholas A. Borja
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)
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7 . Academic Journal
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
저자
by
David Cheerie
;
Marlen Lauffer
;
Danique Beijer
;
Matthis Synofzik
;
Annemieke Aartsma-Rus
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101068- (2024)
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7 . Academic Journal
Deep structured learning for variant prioritization in Mendelian diseases
저자
by
Matt C. Danzi
;
Maike F. Dohrn
;
Sarah Fazal
;
Danique Beijer
;
Adriana P. Rebelo
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
저자
by
Adam Jackson
;
Sheng-Jia Lin
;
Elizabeth A. Jones
;
Kate E. Chandler
;
David Orr
, et al.
소스
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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7 . Academic Journal
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
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by
Maike F. Dohrn
;
Corina Heller
;
Diana Zengeler
;
Carolin D. Obermaier
;
Saskia Biskup
, et al.
소스
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
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7 . Academic Journal
Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures
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by
Danique Beijer
;
Stephan L. Züchner
.
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Frontiers in Molecular Neuroscience, Vol 15 (2022)
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4 . Academic Journal
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
저자
by
Maike F. Dohrn
;
Danique Beijer
;
Lejla Mulahasanovic
.
소스
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-2 (2022)
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5 . Academic Journal
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
저자
by
Danique Beijer
;
Hong Joo Kim
;
Lin Guo
;
Kevin O’Donovan
;
Inès Mademan
, et al.
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JCI Insight, Vol 6, Iss 14 (2021)
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7 .
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
저자
by
Adriana P. Rebelo
;
Ariel Ruiz
;
Maike F. Dohrn
;
Melanie Wayand
;
Amjad Farooq
, et al.
소스
Genetics in medicine 12, 2487-2500 (2022). doi:10.1016/j.gim.2022.08.019
Genetics in medicine
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7 .
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy
저자
by
Silvia Cipriani
;
Marta Guerrero‐Valero
;
Stefano Tozza
;
Edward Zhao
;
Veith Vollmer
, et al.
소스
European journal of neurologyREFERENCES
. 30(2)
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