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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 10, 2021
Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy
Danique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2021
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Alexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk, et al.
European Journal of Human Genetics : EJHG
|
January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
Annemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Cardiovascular Research
|
June 4, 2010
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome
Cornelis J J Boogerd, Dennis Dooijes, Aho Ilgun, et al.
Annals of Neurology
|
April 30, 2014
Mutations in RARS cause hypomyelination
Nicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
Kidney International
|
April 21, 2023
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
Amber de Haan, Albertien M van Eerde, Mark Eijgelsheim, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
Scientific Reports
|
March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Andrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Human Pathology
|
March 26, 2015
Loss of ADAM17 is associated with severe multiorgan dysfunction
Robert H J Bandsma, Harry van Goor, Michael Yourshaw, et al.
Human Molecular Genetics
|
March 2, 2022
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
Hyung-Lok Chung, Patrick Rump, Di Lu, et al.
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of 6
Search research articles
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Showing results (11-20 of 54) with videos related to
Sort By:
Page
of 6
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 10, 2021
Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy
Danique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2021
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Alexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk, et al.
European Journal of Human Genetics : EJHG
|
January 31, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
Annemarie H van der Hout, Grétel G Oudesluijs, Andrea Venema, et al.
Cardiovascular Research
|
June 4, 2010
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome
Cornelis J J Boogerd, Dennis Dooijes, Aho Ilgun, et al.
Annals of Neurology
|
April 30, 2014
Mutations in RARS cause hypomyelination
Nicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
Kidney International
|
April 21, 2023
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
Amber de Haan, Albertien M van Eerde, Mark Eijgelsheim, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
Scientific Reports
|
March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Andrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
Human Pathology
|
March 26, 2015
Loss of ADAM17 is associated with severe multiorgan dysfunction
Robert H J Bandsma, Harry van Goor, Michael Yourshaw, et al.
Human Molecular Genetics
|
March 2, 2022
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
Hyung-Lok Chung, Patrick Rump, Di Lu, et al.
Page
of 6