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: E. Harris, Volker Straub, Hanns Lochmüller, Marta Bertoli, Anna Sarkozy, Steve Laval, Stephen G. Lynch, Ana Töpf

المصدر: Neuromuscular Disorders. 25:S276-S277

مصطلحات موضوعية: Distal symphalangism, business.industry, External ophthalmoplegia, Anatomy, Neurology, Ptosis, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Novel mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b38cc894901cccaca6331e3430f6990Test
https://doi.org/10.1016/j.nmd.2015.06.327Test

المؤلفون: F. Muntoni, P. Goldsmith, V. Straub, K. Bushby, Marta Bertoli, Anna Sarkozy, Hanns Lochmüller, R. Barresi, Teresinha Evangelista, A. Schaefer

المصدر: Neuromuscular Disorders. 24:915-916

مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, Compound heterozygosity, Bioinformatics, Epilepsy, Neurology, Pediatrics, Perinatology and Child Health, medicine, Myoclonic epilepsy, Neurology (clinical), Global developmental delay, Muscular dystrophy, medicine.symptom, business, Genetics (clinical), Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e195fe5c4c4dd2b01082e7e28da411e2Test
https://doi.org/10.1016/j.nmd.2014.06.403Test

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