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1دورية أكاديمية
المصدر: PLoS ONE, Vol 15, Iss 2, p e0229718 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Anna Schossig, Irina Gasslitter, Matthias Schmuth, Ulrich A. Schatz, Johannes Zschocke, Magdalena Seidl-Philipp, Verena Moosbrugger-Martinz, Robert Gruber, Stefan Blunder
المصدر: JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18:17-26
مصطلحات موضوعية: Gynecology, 030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, Dermatology, business
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المؤلفون: Johannes Zschocke, Burkhard Simma, Laura Pölsler, Ulrich A. Schatz, Sabine Rudnik-Schöneborn
المساهمون: Medical Genetics
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: 0301 basic medicine, Male, Fibrillar Collagens, 030105 genetics & heredity, Compound heterozygosity, Microphthalmia, Medicine, Child, Kyphoscoliosis, Genetics (clinical), Exome sequencing, Coloboma, Clinical Report, Scoliosis/etiology, COL27A1, Prognosis, ddc, Scoliosis, Osteochondrodysplasias/etiology, Female, medicine.symptom, Choroid/abnormalities, medicine.medical_specialty, Abnormalities, Multiple/etiology, Hearing loss, phenotype, Hearing Loss, Sensorineural, Coloboma/complications, Osteochondrodysplasias, Short stature, Clinical Reports, Retina, 03 medical and health sciences, Genetics, Steel syndrome, Humans, Abnormalities, Multiple, Hearing Loss, Sensorineural/etiology, Anophthalmia, Syria, business.industry, Retina/abnormalities, Choroid, Fibrillar Collagens/genetics, medicine.disease, Dermatology, eye diseases, 030104 developmental biology, Mutation, business
وصف الملف: application/pdf
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
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المؤلفون: Magdalena Seidl-Philipp, Johannes Zschocke, Irina Gasslitter, Verena Moosbrugger-Martinz, Stefan Blunder, Matthias Schmuth, Ulrich A. Schatz, Robert Gruber, Anna Schossig
المصدر: JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18:17-25
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Dermatology, Disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Microscopy, Electron, Transmission, Congenital ichthyosis, Humans, Medicine, Genetic Testing, Family history, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Ichthyosis, Retrospective cohort study, medicine.disease, Immunohistochemistry, Phenotype, Austria, Mutation, Cohort, Female, business, Ichthyosis vulgaris
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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: Marta K. Danecka, Amelie S. Lotz-Havla, Philipp Guder, Mathias Woidy, Philipp Pagel, Regina Ensenauer, Ulrich A. Schatz, Marc Becker, Ania C. Muntau, Søren W Gersting, Dunja D. Reiß, Lars Büttner
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1866:518-531
مصطلحات موضوعية: Bioluminescence Resonance Energy Transfer Techniques, Gene isoform, Peroxisome-Targeting Signal 1 Receptor, 03 medical and health sciences, 0302 clinical medicine, Ubiquitin, Chlorocebus aethiops, Peroxisomes, Animals, Humans, Protein Isoforms, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, Chemistry, Peroxisomal matrix, Alternative splicing, Membrane Proteins, Intracellular Membranes, Cell Biology, Fibroblasts, Peroxisome, Cell biology, Protein Transport, Heptad repeat, Transmembrane domain, HEK293 Cells, COS Cells, biology.protein, ATPases Associated with Diverse Cellular Activities, Oxidation-Reduction, 030217 neurology & neurosurgery, Function (biology)
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المصدر: PLOS ONE. 17:e0267678
مصطلحات موضوعية: Multidisciplinary
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المؤلفون: Herta Zellner, Melanie A. Manning, Holger Prokisch, Natalia Gomez-Ospina, Georg F. Hoffmann, Johannes A. Mayr, Mirjana Gusic, Lucia Laugwitz, Susanne Morlot, Claudia Krahn-Peper, Thomas Meitinger, Andreas Wroblewski, Michaela Röblitz, Elisabeth Graf, Riccardo Berutti, Eva Bültmann, Tim M. Strom, Dorota Piekutowska-Abramczuk, Penelope E. Bonnen, René G. Feichtinger, Edda Haberlandt, Christine Makowski, Manting Xu, Ulrich A. Schatz, Anibh M. Das, Steffen Syrbe, Katharina Danhauser, Daniela Karall, Anna Kostera-Pruszczyk, Hans Hartmann, Tobias B. Haack, Rafał Płoski, Fang Fang, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy
المصدر: The American Journal of Human Genetics. 103:817-825
مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Glycoside Hydrolases, Developmental Disabilities, Biology, Nervous System Malformations, 03 medical and health sciences, ADP-Ribosylation, 0302 clinical medicine, PARP1, Report, Genetics, medicine, Humans, Exome, Viability assay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Adenosine Diphosphate Ribose, Messenger RNA, Neurodegeneration, Infant, Neurodegenerative Diseases, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Cancer research, Female, NAD+ kinase, medicine.symptom, Protein Processing, Post-Translational, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69de748641d7361a0dc57201bc80a18c
https://doi.org/10.1016/j.ajhg.2018.10.005 -
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المؤلفون: Anna Schossig, Wolfgang H. Muss, Wolfgang M. Schmidt, Stephan Wenninger, Reginald E. Bittner, Simone Weiss, Benedikt Schoser, Sabine Rudnik-Schöneborn, Matthias Baumann, Ulrich A. Schatz
المصدر: Neurology. 91:e1690-e1694
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, Facial weakness, medicine.disease, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, Nemaline myopathy, Internal medicine, medicine, Missense mutation, Neurology (clinical), Allele, medicine.symptom, business, Nemaline bodies, Gene, Founder effect
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::26625385bf82b290055ddff548c6adc1
https://doi.org/10.1212/wnl.0000000000006428
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