المؤلفون: Jessika Johannsen, Jonas Denecke, Roberto Colombo, Tatjana Bierhals, Marta Bertoli, Franziska Degenhardt, Eva Wohlleber, Tim M. Strom, Alexander M. Zink, Jessica Becker, Davor Lessel, Elisabeth Mangold, Dagmar Wieczorek, Laura M Yates, Kirsten Cremer, Hartmut Engels, Kerstin U. Ludwig, Sophia Peters, Theresia Herget, Maja Hempel, Isabelle C Windheuser, Hela Hundertmark

المصدر: Am. J. Med. Genet. A 182, 1021-1031 (2020)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Medizin, Nerve Tissue Proteins, Haploinsufficiency, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Short stature, Young Adult, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Obesity, Child, Genetics (clinical), Exome sequencing, Point mutation, Macrocephaly, Microarray Analysis, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Female, Chromosomal Microarray, Microdeletion 2p25, 3, Myt1l, Whole Exome Sequencing, Chromosome Deletion, medicine.symptom, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6687b40b1f36cdad3881b0200ff57d0Test
https://doi.org/10.1002/ajmg.a.61515Test

المؤلفون: Silvia Maitz, Elisa Rahikkala, Wayne Lam, Pedro A. Sanchez-Lara, Katherine Lachlan, Melissa Lees, Katherine L. Nathanson, Chey Loveday, Lionel Van Maldergem, Shane McKee, Dragana Josifova, Sally Ann Lynch, Katrina Tatton-Brown, Michael Parker, Ana Beleza-Meireles, Andrew G. L. Douglas, Sarina G. Kant, Philip J. Ostrowski, Tyler Mark Pierson, Yvonne Hilhorst-Hofstee, Sofia Douzgou, Kay Metcalfe, Marta Bertoli, Charlotte W. Ockeloen, Usha Kini, Diana Johnson, John Dean, Alice Spano, Trevor Cole, Alison Foster, Jennifer Hague, John M. Graham, Ian O. Ellis, Anna Zachariou, Mariëtte J.V. Hoffer

المصدر: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 4, pp. 557-564
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 557-564
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. WILEY
American Journal of Medical Genetics Part C: Seminars in Medical Genetics

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Scoliosis, macrocephaly, Young Adult, CHD8, Intellectual disability, Genetics, medicine, Humans, Child, overgrowth, Genetics (clinical), Growth Disorders, business.industry, Macrocephaly, Infant, Syndrome, medicine.disease, Cadherins, Umbilical hernia, Neonatal hypotonia, Phenotype, intellectual disability, Overgrowth syndrome, Child, Preschool, Autism, Female, Differential diagnosis, medicine.symptom, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3264e73bb704ac5d8c7608f78ec2c1b6Test
https://doi.org/10.1002/ajmg.c.31749Test

المؤلفون: Miloš Brkušanin, L. Phillips, Straub, Ana Töpf, Vidosava Rakocevic Stojanovic, Daniel G. MacArthur, M. Cassop-Thompson, Dusanka Savic-Pavicevic, Hanns Lochmüller, JN Glumac, Katherine Johnson, L. Xu, Vedrana Milic Rasic, Stojan Peric, S Milenkovic, Marta Bertoli, Ruzica Maksimovic, Monkol Lek, Bojan Banko

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Population, Mutation, Missense, Genes, Recessive, Biology, Compound heterozygosity, Article, Muscular Dystrophies, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Connectin, Myopathy, education, Child, Creatine Kinase, Genetics (clinical), education.field_of_study, Haplotype, Syndrome, Middle Aged, Founder Effect, 3. Good health, Distal Myopathies, 030104 developmental biology, Phenotype, Haplotypes, Case-Control Studies, biology.protein, Titin, Female, medicine.symptom, Serbia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aabd18a1f68ec347c33ec0784e2c02eTest
https://europepmc.org/articles/PMC5437897Test/

المؤلفون: Antonio Novelli, Eleonora Mazzone, Michele Benedetto, Andrea Tinelli, Annunziata Anna Epifania, Antonio Malvasi, Antonio Di Trani, Giuseppe Barrano, Domenico Dell’Edera, Manuela Leo, Damian Simona, Marta Bertoli

المصدر: Molecular Medicine Reports.

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Anemia, medicine.disease_cause, Biochemistry, Asymptomatic, Genetics, medicine, Humans, Glucuronosyltransferase, Promoter Regions, Genetic, Adverse effect, Molecular Biology, Hyperbilirubinemia, Mutation, business.industry, nutritional and metabolic diseases, Jaundice, medicine.disease, Gilbert's syndrome, Molecular medicine, Mutagenesis, Insertional, Glucosephosphate Dehydrogenase Deficiency, Italy, Oncology, Immunology, Molecular Medicine, Female, Gilbert Disease, medicine.symptom, business, Glucose-6-phosphate dehydrogenase deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5775eb8fedfdd044de1a351f33f2dc22Test
https://doi.org/10.3892/mmr.2012.830Test

المؤلفون: Anna Maria Nardone, Chiara Perria, Silvia Pusceddu, Giuseppe Barrano, Barbara Torres, Gigliola Serra, Antonio Novelli, Viola Alesi, Marta Bertoli, Myriam Pastorino

المصدر: Gene. 505(2)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Isoantigens, Kruppel-Like Transcription Factors, Biology, Intellectual disability, Chromosome Duplication, Genetics, medicine, Humans, Autistic Disorder, Gene, X chromosome, Sex Chromosome Aberrations, Genetic association, Zinc finger, Chromosomes, Human, X, Seminal Plasma Proteins, General Medicine, medicine.disease, Chromosome Band, Autism spectrum disorder, Child, Preschool, Speech delay, Mental Retardation, X-Linked, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f521e383f4aec69cd69398982ce20ccdTest
https://pubmed.ncbi.nlm.nih.gov/22634100Test