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1Academic Journal
المؤلفون: Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay
المصدر: JIMD Reports, Vol 65, Iss 5, Pp 305-312 (2024)
مصطلحات موضوعية: alpha‐methylacyl‐CoA racemase deficiency, AMACR gene, hypocholesterolemia, peroxisomal disorders, rhabdomyolysis, variable phenotype, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2Academic Journal
المؤلفون: Selamioğlu, Arzu, Balcı, Mehmet Cihan, Karaca, Meryem, Khalil, Youssef, Hirachan, Rohit, Durmuş Tekçe, Hacer, Parman, Yeşim Gülşen, Gedikbaşı, Asuman, Demirkol, Mübeccel, Clayton, Peter, Gökçay, Gülden
المصدر: JIMD Reports (2024) (In press).
مصطلحات موضوعية: Alpha-methylacyl-CoA racemase deficiency, AMACR gene, hypocholesterolemia, peroxisomal disorders, rhabdomyolysis, variable phenotype
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10194495/1/JIMD%20Reports%202024%2012437.pdf; https://discovery.ucl.ac.uk/id/eprint/10194495/
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3Academic Journal
المؤلفون: Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
المصدر: Genes; Volume 11; Issue 12; Pages: 1497
مصطلحات موضوعية: CERKL, inherited retinal dystrophy (IRD), retinitis pigmentosa (RP), autosomal recessive (ar), variable phenotype
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11121497
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المؤلفون: Huangxuan Shen, Xuan Qiu, Zhonghao Wang, Liuqing Pan, Xiaoming Lin, Jianhua Yan, Qiwen Chen, Tao Shen, Jing Lin, Qingjiong Zhang, Xiuling Li
المصدر: Ophthalmic Genetics. 43:88-96
مصطلحات موضوعية: musculoskeletal diseases, Genetics, genetic structures, Biology, Concomitant strabismus, eye diseases, Ophthalmology, Pediatrics, Perinatology and Child Health, Variable phenotype, Missense mutation, sense organs, PAX6, Chinese family, Gene, Genetics (clinical)
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المؤلفون: Stephen Pophal, Beate Peter, Winnie S. Liang, Nancy J. Scherer, Theresa A. Grebe, Colby Nielsen
المصدر: American Journal of Medical Genetics Part A. 185:1532-1537
مصطلحات موضوعية: 0301 basic medicine, Genetics, Chromosomal translocation, Locus (genetics), 030105 genetics & heredity, Biology, Phenotype, 03 medical and health sciences, 030104 developmental biology, Interactive effects, Variable phenotype, Variable phenotypic expression, Deletion syndrome, Gene, Genetics (clinical)
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المؤلفون: Mor Hanany, Nadav Levinger, Karen Hendler, Yoav Parag, Claudia Yahalom, Dror Sharon, Vardiella Meiner, Adva Kimchi, Eyal Banin, Hadas Mechoulam, Michal Macarov
المصدر: European Journal of Ophthalmology. 31:3349-3354
مصطلحات موضوعية: Retina, medicine.medical_specialty, Occipital encephalocele, genetic structures, business.industry, High myopia, Retinal detachment, Knobloch syndrome, General Medicine, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, Variable phenotype, 030221 ophthalmology & optometry, medicine, Pediatric ophthalmology, sense organs, business, 030217 neurology & neurosurgery
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7
المؤلفون: Mariana Spitz, Luiz Eduardo Novis, Salmo Raskin, Márcia Rodrigues Jardim, Hélio A.G. Teive
المصدر: Arquivos de Neuro-Psiquiatria, Vol 78, Iss 9, Pp 576-585 (2020)
Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 27 JUL 2020
Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 9, Pages: 576-585, Published: 27 JUL 2020
Arquivos de Neuro-Psiquiatria v.78 n.9 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEUROمصطلحات موضوعية: Cerebellar Ataxia, Genotype, Neurosciences. Biological psychiatry. Neuropsychiatry, Bioinformatics, ataxias espinocerebelares, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Highly variable phenotype, Humans, Medicine, In patient, ataxias cerebelares autossômicas dominantes, 030304 developmental biology, spinocerebellar ataxias, Arthrogryposis, Episodic ataxia, next generation sequencing, 0303 health sciences, business.industry, sequenciamento de nova geração, High-Throughput Nucleotide Sequencing, medicine.disease, Clinical Practice, Neurology, Spinocerebellar ataxia, Neurology (clinical), business, autosomal dominant cerebellar ataxias, 030217 neurology & neurosurgery, RC321-571
وصف الملف: text/html
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8Academic Journal
المؤلفون: Caba L., Rusu C., Plăiaşu V., Gug G., Grămescu M., Bujoran C., Ochiană D., Voloşciuc M., Popescu R., Braha E., Pânzaru M., Butnariu L., Sireteanu A., Covic M., Gorduza E.V.
المصدر: Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 35-46 (2012)
مصطلحات موضوعية: chromosomal instability, variable phenotype, mosaicism, rare disease, ring chromosome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1311-0160
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9Academic Journal
المؤلفون: Tougaard, BG, Pedersen, KV, Krag, SR, Gilbertson, JA, Rowczenio, D, Gillmore, JD, Birn, H
المصدر: European Journal of Medical Genetics , 59 (9) pp. 474-477. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Variable Phenotype, Hereditary, Amyloidosis, Apolipoprotein A-I Encoding Mutation, APOA1, Systemic Amyloidosis, Gene, A-1
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1496361/1/Bowman_Manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/1496361/
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12
المؤلفون: Henry Houlden, Georgia Karadima, John Hardy, Marianthi Breza, David Murphy, Leonidas Stefanis, Coras Ronald, Ingmar Blümcke, Georgios Koutsis, Muhammad Ilyas, Chia-Ju Lee, Lucía Chávez-Gutiérrez, Chrisoula Kartanou, Sondos Alikhwan, Thomas Bourinaris, George D. Vavougios, Athanasia Alexoudi, Nicholas W. Wood, Maria Szaruga, Sobia Ahsan Halim, Stylianos Gatzonis, Jana Vandrovcova, Ahmed Al-Harrasi, Viorica Chelban
المصدر: Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)مصطلحات موضوعية: Pathology, GAMMA-SECRETASE, Alzheimer&apos, 0302 clinical medicine, PSEN1, COTTON WOOL PLAQUES, HSP, presenilin, Cognitive decline, 0303 health sciences, biology, spastic paraparesis, Alzheimer's disease, Psychiatry and Mental health, spastic gait, Life Sciences & Biomedicine, Research Article, Spastic gait, medicine.medical_specialty, VARIABLE PHENOTYPE, spastic paraplegia, Hereditary spastic paraplegia, Amyloid beta, Clinical Neurology, Neuropathology, PRESENILIN-1 MUTATIONS, Presenilin, s disease, 03 medical and health sciences, medicine, Genetics, hereditary spastic paraplegia, RC346-429, A-BETA, 030304 developmental biology, Science & Technology, business.industry, DELETION, Neurosciences, RC952-954.6, medicine.disease, Geriatrics, biology.protein, Neurology (clinical), Neurosciences & Neurology, Neurology. Diseases of the nervous system, Age of onset, business, PARAPARESIS, 030217 neurology & neurosurgery, dementia
وصف الملف: Electronic-eCollection
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13
المؤلفون: Mark R Milunski, Somshukla Ghosh
المصدر: Cureus
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic syndromes, Usually asymptomatic, Cardiology, tuberous sclerosis complex, 030204 cardiovascular system & hematology, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Highly variable phenotype, Electrical conduction, Internal medicine, Medicine, Hamartoma, surveillance for cardiac rhabdomyoma, benign cardiac tumor, business.industry, Cardiac rhabdomyoma, General Engineering, tsc-associated cardiac rhabdomyoma, Cardiology clinic, medicine.disease, cardiac tumor in adults, cardiovascular system, business, 030217 neurology & neurosurgery
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14
المؤلفون: Cgc, T. Blaine Crowley, Elizabeth Goldmuntz, Jungwon Min, Elaine H. Zackai, Donna M. McDonald-McGinn, Shrey Patel, Sharon Edman, Daniel E. McGinn, Adam M. Butensky, Alice Bailey, Chiara Pandolfi de Rinaldis
المصدر: Section on Cardiology and Cardiac Surgery Program.
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Variable phenotype, Gene duplication, Cohort, Aortic arch anomalies, Gene chip analysis, Medicine, Deletion syndrome, Cardiac phenotype, Bioinformatics, business, Organ system
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15
المؤلفون: Uri Elbaz, Hermina Strungaru, Kamiar Mireskandari, Asim Ali
المصدر: Cornea. 41(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Ultrasound biomicroscopy, Visual Acuity, Slit Lamp Microscopy, Unilateral disease, Corneal Opacity, Disease severity, Anterior Eye Segment, Ophthalmology, Variable phenotype, medicine, Humans, Eye Abnormalities, Retrospective Studies, business.industry, Anomaly (natural sciences), Corneal opacity, Infant, Newborn, Patient Acuity, Disease Management, Infant, Prognosis, eye diseases, Management algorithm, Phenotype, Wide phenotypic spectrum, Female, business, Tomography, Optical Coherence, Follow-Up Studies
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16
المؤلفون: Gozde Yesil, Yasemin Ozluk, Ozge Hurdogan, Seha Saygili, Lale Sever, Salim Caliskan, Nur Canpolat, Ilayda Altun
المصدر: Pediatric nephrology (Berlin, Germany). 36(7)
مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Proteinuria, business.industry, Urology, medicine.disease, Nephropathy, Staining, Internal medicine, Pediatrics, Perinatology and Child Health, Variable phenotype, medicine, Sensorineural hearing loss, medicine.symptom, Alport syndrome, business
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17
المؤلفون: Victor Greset, Anne-Laure Bonnet, Tiphaine Davit-Beal
المصدر: BMJ Case Rep
مصطلحات موضوعية: 0301 basic medicine, Male, JAG1, Pathology, medicine.medical_specialty, Bone development, Tooth Abnormality, Tooth mineralisation, Unusual Association of Diseases/Symptoms, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Variable phenotype, Alagille syndrome, medicine, Humans, Child, Tooth Demineralization, business.industry, 030206 dentistry, General Medicine, medicine.disease, Phenotype, Penetrance, Alagille Syndrome, stomatognathic diseases, 030104 developmental biology, Female, business
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المصدر: Journal of Pediatric Neurosciences
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Young child, business.industry, General Neuroscience, vision loss, recurrent stroke, Neuroimaging, Lactate peak, medicine.disease, Mitochondrial cytopathy, Heteroplasmy, Pediatrics, Perinatology and Child Health, Variable phenotype, mitochondrial disorder, medicine, Vomiting, Missense mutation, Headaches, medicine.symptom, business, Hemianopsia
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19
المؤلفون: Alexander Williams, Margo Black, Kathryn Dahir
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Genetics, Three prime untranslated region, Bone and Mineral Metabolism, Endocrinology, Diabetes and Metabolism, Variable phenotype, PHEX, medicine, Biology, medicine.disease, Bone and Mineral Case Reports I, AcademicSubjects/MED00250, Hypophosphatemia
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المصدر: Craniomaxillofacial Trauma & Reconstruction. 11:324-330
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Calvarial defect, business.industry, Occipital bone, Anatomy, medicine.disease, nervous system diseases, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Skull, 0302 clinical medicine, medicine.anatomical_structure, Otorhinolaryngology, Plexiform neurofibroma, Variable phenotype, Medicine, Surgery, Oral Surgery, Neurofibromatosis, business, Lambdoid suture, 030217 neurology & neurosurgery
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