المؤلفون: Reza Boostani, Brunhilde Wirth, Sanem Yilmaz, Nico Fuhrmann, Janine Altmueller, Reza Maroofian, Gilbert Wunderlich, Natalie Keller, Olcay Ünver, Bertold Schrank, Cem Paketçi, Uluç Yiş, Susanne Motameny, Peter Nürnberg, Mert Karakaya, Ehsan Ghayoor Karimiani, Holger Thiele

المساهمون: Ege Üniversitesi, Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde, Karakaya, Mert

مصطلحات موضوعية: Neuromuscular disease, Mitochondrial disease, Disease, Biology, Bioinformatics, Lower motor neuron, Muscular Atrophy, Spinal, 03 medical and health sciences, Atrophy, Charcot-Marie-Tooth Disease, mitochondrial dysfunction, Genetics, medicine, Humans, SMA, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Genetic heterogeneity, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, non‐, Genomics, 5q‐, medicine.disease, Phenotype, axonal CMT, Mitochondria, lower motor neuron disease, medicine.anatomical_structure, Technology Platforms, hereditary neuropathy, exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b937a88cebfcb5475f133c7af13ce71Test
https://openaccess.sgul.ac.uk/id/eprint/113088/1/humu.24181.pdfTest

المؤلفون: Ana Töpf, E. O'Heir, Rita Horvath, Steve Laurie, Uluç Yiş, Sergi Beltran, Yavuz Oktay, Didem Soydemir, Semra Hiz, Pinar Edem, Hanns Lochmüller, Ece Sonmezler, G. Sarikaya Uzan, Cem Paketçi

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Brain Dev

مصطلحات موضوعية: Male, Intractable epilepsy, Drug Resistant Epilepsy, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Pediatrics, medicine.medical_specialty, Developmental delay, Developmental Disabilities, medicine.medical_treatment, Twins, Mannosyltransferases, Article, Central Nervous System Neoplasms, Craniofacial Abnormalities, Hemangioma, 03 medical and health sciences, Congenital Disorders of Glycosylation, 0302 clinical medicine, Developmental Neuroscience, Exome Sequencing, medicine, Humans, Exome sequencing, Heterogeneous group, business.industry, Infant, General Medicine, Ketogenic diet, medicine.disease, ALG3, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Diet, Ketogenic, business, 030217 neurology & neurosurgery, Lumbosacral joint, Intractable seizures

وصف الملف: application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7f13055b88b72b7ef2b301d85423c6dTest
https://avesis.deu.edu.tr/publication/details/10be9137-3184-4dfe-b3c2-ece6c354022b/oaiTest

المؤلفون: Irmgard Hoelker, Holger Thiele, Mert Karakaya, Brunhilde Wirth, Janine Altmueller, Cem Paketçi, Uluç Yiş

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Pontocerebellar hypoplasia, SMN1, Lower motor neuron, Consanguinity, Atrophy, GTP-Binding Proteins, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, Spinocerebellar Degenerations, business.industry, Neurodegeneration, Infant, medicine.disease, Magnetic Resonance Imaging, Serine-Type D-Ala-D-Ala Carboxypeptidase, Pedigree, medicine.anatomical_structure, Phenotype, Amino Acid Substitution, Mutation, Cerebellar atrophy, Female, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d63a30164ef01a94ef48ee285fc1d1eTest
https://avesis.deu.edu.tr/publication/details/ee51501b-132e-4fab-8fd6-04ee20b96151/oaiTest