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Hartmut Engels

Showing results (51-60 of 73) with videos related to

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Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, 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 Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Pageof 8

Showing results (51-60 of 73) with videos related to

Sort By:
Pageof 8
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, 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 Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Pageof 8