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1Academic Journal
المؤلفون: Arushi Sangwan, MBBS, Ranjana Meena, MBBS, MD
المصدر: Radiology Case Reports, Vol 19, Iss 5, Pp 2048-2051 (2024)
مصطلحات موضوعية: Colpocephaly, Corpus callosum agenesis, Corpus callosum dysgenesis, Seizure, Headache, Lateral ventricles, Medical physics. Medical radiology. Nuclear medicine, R895-920
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Asiya Kamber Zaidi, Aabiya Arif, Mehwish Butt, Sameer Saleem Tebha, Ishita Ray, Abubakr Yosufi, Puya Dehgani-Mobaraki
المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)
مصطلحات موضوعية: Proboscis lateralis, Bilateral colpocephaly, Cyanotic heart disease, Hemivertebra, Case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2431
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3Academic Journal
المؤلفون: Makwana Darshana, Dhami Param, Dipenkumar Patel, Kanzariya Umesh
المصدر: British Journal of Medical and Health Research, 10(2), 10-15, (2023-02-25)
مصطلحات موضوعية: Colpocephaly, Status Epilepticus, Ostium Secondum Atrial Septal Defect, Ventriculomegaly, Corpus callosal agenesis
Relation: https://doi.org/10.5281/zenodo.7690644; https://doi.org/10.5281/zenodo.7690645; oai:zenodo.org:7690645
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4Academic Journal
المؤلفون: Fidan, Suleyman Emre, Kocyigit, Suleyman Emre
المصدر: Neurocase ; ISSN:1465-3656 ; Volume:30 ; Issue:6
مصطلحات موضوعية: Colpocephaly, aging, dementia, geriatric assessment, idiopathic normal pressure hydrocephalus
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5Academic Journal
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6Academic Journal
المؤلفون: Prerana Warwade, GS Rai, Vikas Warwade
المصدر: PJSR, 12(1), 50-52, (2019-06-01)
مصطلحات موضوعية: colpocephaly, encephalocele, falcine lipoma, shapiro's syndrome
Relation: https://zenodo.org/communities/pjsr; https://doi.org/10.5281/zenodo.8245551; https://doi.org/10.5281/zenodo.8245552; oai:zenodo.org:8245552
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7Academic Journal
المؤلفون: Huseyin Buyukgol, Muzaffer Gunes, Faik ilik, Fatih Kayhan
المصدر: Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 41, Iss 3, Pp 564-566 (2016)
مصطلحات موضوعية: corpus callosum agenesis, colpocephaly, asymptomatic, congenital abnormalities, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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8Academic Journal
المؤلفون: Roxana Beatrice Ciurea, Gabriela Mihailescu, Ruxandra Maria Anton, Delia Parvu, Sanda Maria Nica, Georgiana Pavel, Ioan Buraga, Bogdan O. Popescu
المصدر: Romanian Journal of Neurology, Vol 12, Iss 3, Pp 160-163 (2013)
مصطلحات موضوعية: corpus callosum, dysgenesis, colpocephaly, Medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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9
المؤلفون: Fatima Rauf, Sidra Rauf, Mansoor-ul-Haq Mansoor-ul-Haq
المصدر: European Journal of Medical Case Reports. :226-229
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Corpus Callosum Agenesis, business.industry, Corpus callosum, medicine.disease, Colpocephaly, Agenesis, medicine, Vici syndrome, medicine.symptom, business, Rare disease, Hypopigmentation
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10
المؤلفون: Katherine Reiter, Kasia Gustaw Rothenberg
المصدر: Neurocase. 26:353-359
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, 050105 experimental psychology, 03 medical and health sciences, Colpocephaly, 0302 clinical medicine, Arts and Humanities (miscellaneous), Neuroimaging, Lateral Ventricles, medicine, Humans, Cognitive Dysfunction, 0501 psychology and cognitive sciences, Neuropsychological assessment, Age of Onset, Brain Diseases, medicine.diagnostic_test, business.industry, 05 social sciences, Neuropsychology, Middle Aged, Executive functions, medicine.disease, Magnetic Resonance Imaging, Porencephaly, Neurology (clinical), Presentation (obstetrics), business, 030217 neurology & neurosurgery, Ventriculomegaly
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11
المؤلفون: Ryutaro Kira, Kozue Kobayashi, Kyoko Hoshino, Tadashi Shiohama, Sachiko Miyamoto, Akio Ebata, Akira Hojo, Masayuki Furuyama, Hirotomo Saitsu, Nobuko Moriyama, Mitsuko Nakashima, Pin Fee Chong, Manabu Suzuki, Tatsuya Yamamoto, Takuya Hiraide, Hiroko Matsushita, Tomohide Goto, Mitsuhiro Kato, Hiroko Ikeda, Mayumi Matsufuji
المصدر: Journal of human genetics. 66(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, DNA Copy Number Variations, colpocephaly, Motor Disorders, 030105 genetics & heredity, Biology, Corpus callosum, Nervous System Malformations, Genetic analysis, whole exome sequencing, Congenital Abnormalities, Corpus Callosum, 03 medical and health sciences, Lateral ventricles, Colpocephaly, Young Adult, Japan, Intellectual Disability, Lateral Ventricles, Intellectual disability, Exome Sequencing, Genetics, medicine, Humans, Copy-number variation, Child, Genetics (clinical), Exome sequencing, Brain Diseases, Corpus callosum anomaly, Brain, medicine.disease, 030104 developmental biology, somatic mosaicism, Phenotype, Child, Preschool, Mutation, Etiology, Female, Agenesis of Corpus Callosum, copy number variants
وصف الملف: application/pdf
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12Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
المؤلفون: Jose Pascual, Edwin Rodriguez, Cristal Hernandez-Hernandez, Simon Carlo, Frances Velez-Bartolomei, Alberto Santiago Cornier
المصدر: AME Case Rep
مصطلحات موضوعية: Microcephaly, business.industry, Lissencephaly, Case Report, General Medicine, Anatomy, medicine.disease, Hypoplasia, Colpocephaly, medicine.anatomical_structure, Palpebral fissure, medicine, Eyelid, Plagiocephaly, business, Haploinsufficiency
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13
المصدر: Case Reports in Pediatrics
Case Reports in Pediatrics, Vol 2021 (2021)مصطلحات موضوعية: genetic structures, business.industry, Case Report, General Medicine, Aplasia, Anatomy, medicine.disease, Oculocerebrocutaneous syndrome, Pediatrics, Hypoplasia, RJ1-570, eye diseases, Colpocephaly, medicine.anatomical_structure, Cerebellar hemisphere, medicine, Cerebellar vermis, Agenesis of the corpus callosum, business, Orbit (anatomy)
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14
المؤلفون: Bei You, Deanna Streck, Jie-Gen Jiang, James Dermody, Changqing Xia, Lisa Osborne, Dibyendu Kumar, Beth A. Pletcher
المصدر: Journal of Pediatric Genetics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hyperparathyroidism, business.industry, Hearing loss, 030209 endocrinology & metabolism, Metabolic acidosis, medicine.disease, Corpus callosum, Hypoplasia, 03 medical and health sciences, Colpocephaly, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Medicine, Sensorineural hearing loss, medicine.symptom, business, Wolf–Hirschhorn syndrome, 030217 neurology & neurosurgery, Genetics (clinical)
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15Academic Journal
المؤلفون: Miyamoto Sachiko, Kato Mitsuhiro, Hiraide Takuya, Shiohama Tadashi, Goto Tomohide, Hojo Akira, Ebata Akio, Suzuki Manabu, Kobayashi Kozue, Chong Pin Fee, Kira Ryutaro, Baber Matsushita Hiroko, Ikeda Hiroko, Hoshino Kyoko, Matsufuji Mayumi, Moriyama Nobuko, Furuyama Masayuki, Yamamoto Tatsuya, Nakashima Mitsuko, Saitsu Hirotomo
مصطلحات موضوعية: Corpus callosum anomaly, colpocephaly, copy number variants, somatic mosaicism, whole exome sequencing
وصف الملف: application/pdf
Relation: https://hama-med.repo.nii.ac.jp/?action=repository_uri&item_id=3790; http://hdl.handle.net/10271/00003914; Journal of Human Genetics, 66(11), 1061-1068(2021-11)
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16Academic Journal
المؤلفون: Panduranga Chikkannaiah, V. Srinivasamurthy, B. S. Satish Prasad, Pradeepkumar Lalyanayak, Divya N. Shivaram
المصدر: Journal of Neurosciences in Rural Practice, Vol 05, Iss 04, Pp 389-393 (2014)
مصطلحات موضوعية: colpocephaly, iniencephaly, omphalocele, pulmonary hypoplasia, spina bifida, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Relation: https://doaj.org/toc/0976-3147; https://doaj.org/toc/0976-3155; https://doaj.org/article/24647f29bd374e288d01fc77581f045c
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17
المؤلفون: J.M. Lieb, F J Ahlhelm
المصدر: Der Radiologe. 58:636-645
مصطلحات موضوعية: 0301 basic medicine, Third ventricle, medicine.diagnostic_test, business.industry, Fetal alcohol syndrome, Magnetic resonance imaging, Anatomy, Lipoma, medicine.disease, 03 medical and health sciences, Colpocephaly, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Radiology, Nuclear Medicine and imaging, Differential diagnosis, Agenesis of the corpus callosum, business, 030217 neurology & neurosurgery, Diffusion MRI
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18
المصدر: Brazilian Journal of Case Reports. 1:12-13
مصطلحات موضوعية: Colpocephaly, medicine.medical_specialty, Bálint's syndrome, business.industry, Cerebral infarction, Internal medicine, medicine, Cardiology, General Medicine, medicine.disease, business
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19
المؤلفون: Pankaj Saini, Anjali Kumar, Ashutosh Gupta, Sanjay Mehta, Tauqeer Syed Fazal
المصدر: Journal of Fetal Medicine. :41-45
مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Third ventricle, business.industry, Anatomy, Corpus callosum, medicine.disease, Hydrocephalus, 03 medical and health sciences, Lateral ventricles, Dysgenesis, Colpocephaly, 030104 developmental biology, medicine.anatomical_structure, nervous system, Modeling and Simulation, Cerebellar vermis, Medicine, business
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20
المصدر: Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-7 (2020)مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Intelligence, Intellectual disability, Neurocognitive Disorders, lcsh:Medicine, Neurological examination, Case Report, Corpus callosum, 050105 experimental psychology, 03 medical and health sciences, Colpocephaly, 0302 clinical medicine, medicine, Humans, 0501 psychology and cognitive sciences, Agenesis of the corpus callosum, Child, Ultrasonography, medicine.diagnostic_test, Cerebral malformations, business.industry, 05 social sciences, lcsh:R, Neuropsychology, Neuropsychological testing, General Medicine, medicine.disease, Ventriculomegaly, Agenesis of Corpus Callosum, business, Tomography, X-Ray Computed, Neurocognitive, Neurocognitive development, 030217 neurology & neurosurgery