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B Wortmann

Showing results (191-200 of 205) with videos related to

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Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaireSarah C Grünert, Terry G J Derks, Katarina Adrian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Pageof 21

Showing results (191-200 of 205) with videos related to

Sort By:
Pageof 21
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaireSarah C Grünert, Terry G J Derks, Katarina Adrian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Pageof 21