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Plos One
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July 16, 2015
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Fanny Kortüm, Frederike Leonie Harms, Natascha Hennighausen, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Magdalena Danyel, Fanny Kortüm, Katarina Dathe, et al.
HGG Advances
|
October 8, 2025
A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
Frederike L Harms, Fanny Kortüm, Malik Alawi, et al.
Journal of Neurochemistry
|
March 24, 2020
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Fatemeh Hassani Nia, Daniel Woike, Katja Kloth, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, et al.
Pediatrics
|
December 30, 2016
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Fanny Kortüm, Iris Marquardt, Malik Alawi, et al.
Neurogenetics
|
May 30, 2018
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, et al.
Seizure
|
March 29, 2025
Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Christiane K Bauer, Fanny Kortüm, Anna Möllring, et al.
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Search research articles
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Showing results (1-10 of 48) with videos related to
Sort By:
Page
of 5
Plos One
|
July 16, 2015
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Fanny Kortüm, Frederike Leonie Harms, Natascha Hennighausen, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Magdalena Danyel, Fanny Kortüm, Katarina Dathe, et al.
HGG Advances
|
October 8, 2025
A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
Frederike L Harms, Fanny Kortüm, Malik Alawi, et al.
Journal of Neurochemistry
|
March 24, 2020
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Fatemeh Hassani Nia, Daniel Woike, Katja Kloth, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, et al.
Pediatrics
|
December 30, 2016
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Fanny Kortüm, Iris Marquardt, Malik Alawi, et al.
Neurogenetics
|
May 30, 2018
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2014
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, et al.
Seizure
|
March 29, 2025
Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Christiane K Bauer, Fanny Kortüm, Anna Möllring, et al.
Page
of 5