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المؤلفون: Holger Hengel, Rebecca Buchert, Marc Sturm, Tobias B. Haack, Yvonne Schelling, Muhammad Mahajnah, Rajech Sharkia, Abdussalam Azem, Ghassan Balousha, Zaid Ghanem, Mohammed Falana, Osama Balousha, Suhail Ayesh, Reinhard Keimer, Werner Deigendesch, Jimmy Zaidan, Hiyam Marzouqa, Peter Bauer, Ludger Schöls
المصدر: European journal of human genetics 30(2), 248 (2022). doi:10.1038/s41431-021-00909-7
مصطلحات موضوعية: Genetics, ddc:610, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2428f872f2bce3d92df117d5bd0c0115
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المؤلفون: Rebecca Buchert, Zaid Ghanem, Mohammed Falana, Peter Bauer, Suhail Ayesh, Hiyam Marzouqa, Yvonne Schelling, Rajech Sharkia, Holger Hengel, Osama Balousha, Werner Deigendesch, Ghassan Balousha, Abdussalam Azem, Ludger Schöls, Jimmy Zaidan, Marc Sturm, Muhammad Mahajnah, Reinhard Keimer, Tobias B. Haack
المصدر: European Journal of Human Genetics
European journal of human genetics 28(8), 1034-1043 (2020). doi:10.1038/s41431-020-0609-9مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Genetic testing, Genetic counseling, Consanguinity, Biology, Runs of Homozygosity, standards [Exome Sequencing], Article, 03 medical and health sciences, SGCG, 0302 clinical medicine, Gene Frequency, Genetics research, Exome Sequencing, Genetics, medicine, genetics [Arabs], Humans, Genetic Predisposition to Disease, ddc:610, Genetics (clinical), Exome sequencing, medicine.diagnostic_test, genetics [Nervous System Diseases], Arabs, Pedigree, 030104 developmental biology, Genetic Loci, statistics & numerical data [Exome Sequencing], Female, Nervous System Diseases, Inbreeding, Neurological disorders, 030217 neurology & neurosurgery
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المؤلفون: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
المصدر: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024مصطلحات موضوعية: Proband, Male, Microcephaly, metabolism [Neurodevelopmental Disorders], Care4Rare Canada Consortium, Proteome, Loss of Heterozygosity, Medical and Health Sciences, Germline, Mice, transcriptomics, Neurodevelopmental disorder, Neoplasm Proteins/genetics, Cell Movement, Loss of Function Mutation, thin corpus callosum, BCAS3, 2.1 Biological and endogenous factors, Global developmental delay, microcephaly, Aetiology, Child, analysis [Proteome], Genetics (clinical), Fibroblasts/metabolism, Genetics, Mice, Knockout, Pediatric, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, BCAS3 protein, human, Biological Sciences, ddc, Neoplasm Proteins, Pedigree, Child, Preschool, metabolism [Neoplasm Proteins], Knockout mouse, Drosophila, Female, UAS-Gal4, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Adult, Adolescent, pyramidal tract involvement, Knockout, global developmental delay, Biology, Short stature, Article, 03 medical and health sciences, Young Adult, proteomics, ddc:570, etiology [Neurodevelopmental Disorders], fibroblasts, Proteome/analysis, medicine, pathology [Neurodevelopmental Disorders], Neurodevelopmental Disorders/etiology, Animals, Humans, Allele, Preschool, 030304 developmental biology, genetics [Neoplasm Proteins], Human Genome, Infant, medicine.disease, neurodevelopmental disorder, Brain Disorders, Genomics England Research Consortium, Neurodevelopmental Disorders, Congenital Structural Anomalies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207 -
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المؤلفون: Ulrike Schara, Jan S. Kirschke, Osama Balousha, Mona Grimmel, Katrin Rupprich, Olaf Riess, Matthias Vorgerd, Tim M. Strom, Mohammed Falna, Marc Sturm, Thomas Meitinger, Bader Alhaddad, Stephan Zierz, Tobias B. Haack, Marcus Deschauer, Beate Schlotter-Weigel, Berit Jordan, Ludger Schöls, Jakob Admard, Ilka Schneider, Martina Kreiß, Joachim Weis, Anastasia Gazou, Cornelia Kornblum, Torsten Kraya, Ghassan Balousha, Holger Hengel
المصدر: Brain 144(2), 574-583 (2021). doi:10.1093/brain/awaa418
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, VWA1 protein, human, Adolescent, Medizin, pathology [Neuromuscular Diseases], Perlecan, medicine.disease_cause, Whole Exome Sequencing, pathology [Muscle, Skeletal], 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, Collagen VI, genetics [Extracellular Matrix Proteins], genetics [Neuromuscular Diseases], Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Child, Exome sequencing, Loss function, VWA1, Mutation, Extracellular Matrix Proteins, biology, business.industry, Muscle weakness, Middle Aged, mutations, Pedigree, 030104 developmental biology, biology.protein, neuromyopathy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4cbf98596bb6fa8ac11810460b10028
https://www.ncbi.nlm.nih.gov/pubmed/33459760
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