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Showing results (591-600 of 621) with videos related to

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Brain : a Journal of Neurology|May 10, 2023
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsAndreas Roos, Peter F M van der Ven, Hadil Alrohaif, et al.
Molecular Cell|December 3, 2014
RIP3 induces apoptosis independent of pronecrotic kinase activityPratyusha Mandal, Scott B Berger, Sirika Pillay, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a ReviewJair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Nature|November 12, 2013
Dysfunctional nitric oxide signalling increases risk of myocardial infarctionJeanette Erdmann, Klaus Stark, Ulrike B Esslinger, et al.
Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.
Pageof 63

Showing results (591-600 of 621) with videos related to

Sort By:
Pageof 63
Brain : a Journal of Neurology|May 10, 2023
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsAndreas Roos, Peter F M van der Ven, Hadil Alrohaif, et al.
Molecular Cell|December 3, 2014
RIP3 induces apoptosis independent of pronecrotic kinase activityPratyusha Mandal, Scott B Berger, Sirika Pillay, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a ReviewJair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Nature|November 12, 2013
Dysfunctional nitric oxide signalling increases risk of myocardial infarctionJeanette Erdmann, Klaus Stark, Ulrike B Esslinger, et al.
Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.
Pageof 63