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Christiane Zweier

Showing results (111-120 of 164) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Clinical Genetics|January 25, 2019
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementMarcella Zollino, Christiane Zweier, Ingrid D Van Balkom, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
HGG Advances|June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Pageof 17

Showing results (111-120 of 164) with videos related to

Sort By:
Pageof 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Clinical Genetics|January 25, 2019
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementMarcella Zollino, Christiane Zweier, Ingrid D Van Balkom, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
HGG Advances|June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Pageof 17