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المؤلفون: Kin Fen Kevin Fung, Yin Yee Kwong, Wing Sze Mak, Yee Ling Elaine Kan
المصدر: Radiology. 296:463-467
مصطلحات موضوعية: Male, Percentile, Pediatrics, medicine.medical_specialty, Ribs, Physical examination, Pectus excavatum, medicine, Deformity, Humans, Radiology, Nuclear Medicine and imaging, Menkes Kinky Hair Syndrome, Full Term, medicine.diagnostic_test, business.industry, Skull, Brain, Infant, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Radiography, Pneumonia, medicine.anatomical_structure, Copper-Transporting ATPases, medicine.symptom, business, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efeed5f351aaee2ac37422c4478f95fdTest
https://doi.org/10.1148/radiol.2020182237Test -
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المؤلفون: Masood Ghahvechi-Akbar, Reza Hajati, Davood Zare-Abdollahi, Afagh Alavi, Saeideh Ghasemi, Leila Tahernia, Mohammad Vafaee-Shahi, Atefeh Davarzani
المصدر: Current Journal of Neurology
مصطلحات موضوعية: Proband, Sanger sequencing, Pathology, medicine.medical_specialty, Ataxia, business.industry, Genetic counseling, Short Communication, Gigaxonin, medicine.disease, Whole Exome Sequencing, symbols.namesake, Neurology, Giant Axonal Neuropathy, symbols, Medicine, GAN Protein, Allelic heterogeneity, Neurology (clinical), medicine.symptom, business, Menkes Kinky Hair Syndrome, Exome sequencing, Giant axonal neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25512049149c8fc68c28bd5be8c5f2cbTest
http://europepmc.org/articles/PMC8236428Test -
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المؤلفون: Ridhi Sood, Chaithanya Reddy, Kirti Gupta, Azhar Navid, Neha Saharan, Jitendra Kumar Sahu, Balamurugan Thirunavukkarasu
المصدر: Clinical neuropathology. 40(5)
مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Autopsy, Pathology and Forensic Medicine, Cortex (anatomy), medicine, Humans, Menkes Kinky Hair Syndrome, medicine.diagnostic_test, business.industry, Cerebrum, Metabolic disorder, Brain, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, medicine.anatomical_structure, nervous system, Neurology, Gliosis, Menkes disease, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3867958a3b3a07e65f4fcff279fd3fc6Test
https://pubmed.ncbi.nlm.nih.gov/34032205Test -
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المؤلفون: Bruna Cristine Chwal, Ana Carolina de Freitas Lopes, Jonas Alex Morales Saute, Silvana Perini, Maria Angelica Pires Ferreira, Filippo Vairo
المصدر: Molecular Genetics and Metabolism. 126:6-13
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, Prenatal diagnosis, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Catecholamines, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Intensive care medicine, Molecular Biology, Disease burden, Clinical Trials as Topic, business.industry, Guideline, medicine.disease, Early Diagnosis, Mutation, Practice Guidelines as Topic, Anxiety, Female, Menkes disease, medicine.symptom, business, Copper, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10af887e4cf24b76a1a02a888f578376Test
https://doi.org/10.1016/j.ymgme.2018.12.005Test -
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المؤلفون: Christine Stoops, Joseph B. Philips, Taylor Woodfin, Edward J. Lose, Fady M. Mikhail, Anna C.E. Hurst
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, DNA Mutational Analysis, 030105 genetics & heredity, Fatal Outcome, overlapping phenotype, Family history, Medical History Taking, Menkes Kinky Hair Syndrome, Genetics (clinical), Comparative Genomic Hybridization, Clinical Report, medicine.diagnostic_test, Menkes disease, Hypotonia, Pedigree, Failure to thrive, Medical genetics, Chromosome Deletion, medicine.symptom, Respiratory Insufficiency, medicine.medical_specialty, lcsh:QH426-470, Koolen De Vries syndrome, Hypertension, Pulmonary, ATP7A, Nitric Oxide, Clinical Reports, 03 medical and health sciences, Koolen‐de Vries, Intellectual Disability, Organometallic Compounds, Genetics, medicine, Humans, Abnormalities, Multiple, Histidine, Genetic Testing, Molecular Biology, Genetic testing, business.industry, Infant, Newborn, medicine.disease, lcsh:Genetics, 030104 developmental biology, Copper-Transporting ATPases, Mutation, business, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848f7e75dc4c32d62021e0dbe2d9ef7eTest
https://doi.org/10.1002/mgg3.829Test -
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المؤلفون: Mi Young Kim, Seong Heon Kim, Young Jae Im, Hee Gyung Kang, Kwanjin Park, Jong Hee Chae, Hae Il Cheong, Myung Hyun Cho, Ji Hyun Kim, Young Hun Choi
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genotype, Urinary system, DNA Mutational Analysis, Urinary Bladder, Connective tissue, 03 medical and health sciences, 0302 clinical medicine, Urological complication, Urinary Bladder Diverticula, Chronic Kidney Disease, Correspondence, medicine, Humans, 030212 general & internal medicine, Menkes Kinky Hair Syndrome, Retrospective Studies, Ultrasonography, business.industry, Medical record, Retrospective cohort study, General Medicine, Prognosis, medicine.disease, ATP7A Gene, Hypotonia, Diverticulum, Menkes Disease, Phenotype, medicine.anatomical_structure, Copper-Transporting ATPases, Child, Preschool, Original Article, Urological Complication, Female, Menkes disease, medicine.symptom, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca4d431cecaf9dac6cb5c54e41c1423dTest
https://doi.org/10.3346/jkms.2019.34.e4Test -
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المؤلفون: Stephen G. Kaler, Jamie Marko, Julienne E. Price, Kristen E. Stevens
المصدر: American journal of medical genetics. Part AREFERENCES. 182(6)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, ATP7A, Genetics, medicine, Humans, Genetic Predisposition to Disease, Menkes Kinky Hair Syndrome, Prospective cohort study, Child, Internal jugular vein, Genetics (clinical), Ultrasonography, business.industry, Infant, medicine.disease, Failure to Thrive, Copper-Transporting ATPases, Neurodevelopmental Disorders, Child, Preschool, Failure to thrive, Mutation, Etiology, Menkes disease, Female, medicine.symptom, Abnormality, Jugular Veins, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc1bf38f5128548dda304df9db98722Test
https://pubmed.ncbi.nlm.nih.gov/32293788Test -
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المؤلفون: Jong Hee Chae, Byung Chan Lim, Moon Woo Seong, Yong Seung Hwang, Ki Joong Kim, Sung Sup Park, Jin Sook Lee, In One Kim, Jung Eun Cheon
المصدر: Brain and Development. 37:223-229
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Pediatrics, DNA Mutational Analysis, Nonsense mutation, Mutation, Missense, Epilepsy, Developmental Neuroscience, Republic of Korea, Humans, Medicine, Missense mutation, Ictal, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Generalized tonic seizures, Retrospective Studies, Adenosine Triphosphatases, business.industry, Brain, Infant, Electroencephalography, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hypsarrhythmia, Hypotonia, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Neurology (clinical), medicine.symptom, business, Magnetic Resonance Angiography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5b96f6f2e6c1f24e67413103696b23Test
https://doi.org/10.1016/j.braindev.2014.04.012Test -
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المؤلفون: Krishan K. Selwal, Kapil Dev, Pankaj Tyagi, Anami Ahuja, Ranjeet S Tanwar
المصدر: Journal of Trace Elements in Medicine and Biology. 29:11-23
مصطلحات موضوعية: chemistry.chemical_classification, Reactive oxygen species, Programmed cell death, Pathology, medicine.medical_specialty, Necrosis, Chemistry, DNA damage, Amyotrophic Lateral Sclerosis, Brain, Neurological disorder, medicine.disease, Biochemistry, Inorganic Chemistry, Oxidative Stress, Alzheimer Disease, medicine, Humans, Molecular Medicine, Menkes disease, Alzheimer's disease, Amyotrophic lateral sclerosis, medicine.symptom, Menkes Kinky Hair Syndrome, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28fe99852e74a0ed10ceccc26341163aTest
https://doi.org/10.1016/j.jtemb.2014.05.003Test -
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المؤلفون: Salvatore Grosso, Sara Matricardi, Pasquale Parisi, Nicola Specchio, Bernardo Dalla Bernardina, Alberto Verrotti, Francesca Darra, Giangennaro Coppola, Raffaella Cusmai, Elena Freri, Elsa Bevivino, Stefano Sartori, Lucio Giordano, Paola Martelli, Alberto Spalice, Alessia Carelli, Patrizia Accorsi, Daniela Zini, Silvia Bergamo
المصدر: Epilepsy Research. 108:1597-1603
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Myoclonic Jerk, Status epilepticus, Neuropsychological Tests, Electroencephalography, Epilepsy, Neuroimaging, Menkes disease, EEG, Humans, Medicine, Age of Onset, Anticonvulsants, Child, Preschool, Infant, Longitudinal Studies, Magnetic Resonance Imaging, Menkes Kinky Hair Syndrome, Retrospective Studies, Child, Preschool, Tomography Scanners, Menkes disease, Epilepsy, Status epilepticus, EEG, medicine.diagnostic_test, business.industry, Seizure types, medicine.disease, X-Ray Computed, Discontinuation, Neurology, Anesthesia, Neurology (clinical), medicine.symptom, business, epilepsy, seizures, menkes disease, EEG abnormalities, brain malformations, long-term outcome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b287bc842bcf98faea70da819819deTest
https://doi.org/10.1016/j.eplepsyres.2014.08.006Test