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Movement Disorders : Official Journal of the Movement Disorder Society
|
June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
Isabell Cordts, Demet Önder, Andreas Traschütz, et al.
Brain : a Journal of Neurology
|
April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
Matthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Neurology
|
August 11, 2017
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Ilaria Giordano, Florian Harmuth, Heike Jacobi, et al.
BMC Cancer
|
August 10, 2019
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, et al.
Blood
|
December 6, 2024
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations
Natalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, et al.
European Journal of Human Genetics : EJHG
|
July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
Christopher Schroeder, Ulrike Faust, Luisa Krauße, et al.
Ebiomedicine
|
September 16, 2023
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents
Alexandra Liebmann, Jakob Admard, Sorin Armeanu-Ebinger, et al.
Nature Communications
|
September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Nature Genetics
|
April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
Prenatal Diagnosis
|
May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Page
of 11
Search research articles
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Showing results (71-80 of 106) with videos related to
Sort By:
Page
of 11
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
Isabell Cordts, Demet Önder, Andreas Traschütz, et al.
Brain : a Journal of Neurology
|
April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
Matthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Neurology
|
August 11, 2017
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Ilaria Giordano, Florian Harmuth, Heike Jacobi, et al.
BMC Cancer
|
August 10, 2019
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, et al.
Blood
|
December 6, 2024
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations
Natalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, et al.
European Journal of Human Genetics : EJHG
|
July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
Christopher Schroeder, Ulrike Faust, Luisa Krauße, et al.
Ebiomedicine
|
September 16, 2023
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents
Alexandra Liebmann, Jakob Admard, Sorin Armeanu-Ebinger, et al.
Nature Communications
|
September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Nature Genetics
|
April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
Prenatal Diagnosis
|
May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Page
of 11