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index medicus (15) 15
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1. Full Text Understanding the epilepsy in POLG related disease
by Hikmat, Omar and Eichele, Tom and Tzoulis, Charalampos and Bindoff, Laurence A
International Journal of Molecular Sciences, ISSN 1661-6596, 09/2017, Volume 18, Issue 9, p. 1845
Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform discharges typically affect the... 
Occipital lobe epilepsy | Mitochondria | mtDNA | Epilepsy | Stroke-like episodes | Status epilepticus | Mechanism | POLG | epilepsy | DNA-POLYMERASE-GAMMA | mitochondria | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | MITOCHONDRIAL DISEASE | occipital lobe epilepsy | CHEMISTRY, MULTIDISCIPLINARY | ENCEPHALOPATHY | PATHOGENESIS | status epilepticus | ALPERS-SYNDROME | MUTATIONS | SPECTRUM | mechanism | stroke-like episodes | DNA Polymerase gamma - metabolism | Disease Susceptibility | Humans | Cerebral Cortex - pathology | DNA Polymerase gamma - genetics | Magnetic Resonance Imaging - methods | Epilepsy - metabolism | Electroencephalography | Epilepsy - etiology | Epilepsy - diagnosis | Animals | Neurons - metabolism | Epilepsy - therapy | Seizing | Energy metabolism | Firing pattern | EEG | Mitochondrial DNA | Metabolism | Morbidity | Polymerase | Convulsions & seizures | Damage detection | Neurodegeneration | Adults | Children | Electron transport | Seizures
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2. Full Text Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications
by Hikmat, Omar and Naess, Karin and Engvall, Martin and Klingenberg, Claus and Rasmussen, Magnhild and Tallaksen, Chantal M. E and Brodtkorb, Eylert and Fiskerstrand, Torunn and Isohanni, Pirjo and Uusimaa, Johanna and Darin, Niklas and Rahman, Shamima and Bindoff, Laurence A and Sahlgrenska akademin and Institute of Clinical Sciences, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, Avdelningen för pediatrik and Sahlgrenska Academy
Epilepsia, ISSN 0013-9580, 08/2018, Volume 59, Issue 8, pp. 1595 - 1602
Summary Objective Epilepsy is common in individuals with mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma.... 
epilepsy | blood‐brain barrier | CSF protein | mitochondria | CSF/serum ratio of albumin | POLG | blood-brain barrier | DNA-POLYMERASE-GAMMA | W748S MUTATION | INVOLVEMENT | STATUS EPILEPTICUS | BLOOD-BRAIN-BARRIER | CLINICAL NEUROLOGY | DISRUPTION | DISEASE | CENTRAL-NERVOUS-SYSTEM | CSF/semm ratio of albumin | ALBUMIN | SPECTRUM | Medical research | Epilepsy | Albumin | Medicine, Experimental | DNA polymerases | Mitochondrial DNA | Seizures (Medicine) | Diagnosis | Neurological diseases | Proteins | Phenotypes | Blood-brain barrier | Cerebrospinal fluid | Mutation | Survival | DNA-directed DNA polymerase | Pediatrics | Pediatrik
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3. Full Text The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
by Hikmat, Omar and Tzoulis, Charalampos and Chong, Wui K and Chentouf, Latifa and Klingenberg, Claus and Fratter, Carl and Carr, Lucinda J and Prabhakar, Prab and Kumaraguru, Nandhini and Gissen, Paul and Cross, J Helen and Jacques, Thomas S and Taanman, Jan-Willem and Bindoff, Laurence A and Rahman, Shamima
Genetics in Medicine, ISSN 1098-3600, 11/2017, Volume 19, Issue 11, pp. 1217 - 1225
Purpose: Mutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical... 
Alpers | myocerebrohepatopathy syndrome | mtDNA depletion | infantile hepatocerebral syndromes | mitochondrial disease | DEPLETION | DISORDERS | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | CHILDHOOD | DEGENERATION | ENCEPHALOPATHY | POLG1 MUTATIONS | TRANSFER-RNA SYNTHETASE | GENETICS & HEREDITY | ALPERS-SYNDROME | EPILEPSY | Mitochondrial Diseases - genetics | Mitochondrial Diseases - pathology | Developmental Disabilities - physiopathology | Humans | DNA Polymerase gamma - genetics | Child, Preschool | Genotype | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Diseases - enzymology | Magnetic Resonance Imaging | Phenotype | Female | Retrospective Studies | Muscle, Skeletal - pathology | Mutation | Mitochondrial Diseases - physiopathology | Child | Disease
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4. Full Text Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
by Hikmat, Omar and Tzoulis, Charalampos and Chong, Wui K and Chentouf, Latifa and Klingenberg, Claus and Fratter, Carl and Carr, Lucinda J and Prabhakar, Prab and Kumaraguru, Nandhini and Gissen, Paul and Cross, J Helen and Jacques, Thomas S and Taanman, Jan-Willem and Bindoff, Laurence A and Rahman, Shamima
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1027 - 1027
Since the online publication of the article, the authors have noted errors with Table 2; this has now been corrected in both the HTML and the PDF. 
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5. Full Text Intensity of Cancer Care Near the End of Life at a Tertiary Care Cancer Center in Jordan
by Abdel-Razeq, Hikmat and Shamieh, Omar and Abu-Nasser, Mahmoud and Nassar, Moath and Samhouri, Yazan and Abu-Qayas, Bashar and Asfour, Joud and Jarrah, Joud and Abdelrahman, Zaid and Ameen, Zaid and Al-Hawamdeh, AbdelRahman and Alomari, Mohammad and Al-Tabba', Amal and Al-Rimawi, Dalia and Hui, David
Journal of Pain and Symptom Management, ISSN 0885-3924, 06/2019, Volume 57, Issue 6, pp. 1106 - 1113
Chemotherapy use in the last month of life is an indicator of poor quality of end-of-life care. We assessed the frequency of chemotherapy use at the end of... 
quality of health care | terminal care | Drug therapy | neoplasms | palliative care | QUALITY | TRENDS | CLINICAL NEUROLOGY | OF-LIFE | MEDICINE, GENERAL & INTERNAL | COSTS | ONCOLOGY | INDICATORS | CHEMOTHERAPY USE | HEALTH CARE SCIENCES & SERVICES | AGGRESSIVENESS | PREDICTIONS | Chemotherapy | Palliative treatment | Cancer | Chart reviews | Hematology | Hospice care | Pain management | Palliative care | End of life decisions
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6. Full Text The presence of anaemia negatively influences survival in patients with POLG disease
by Hikmat, Omar and Charalampos, Tzoulis and Klingenberg, Claus and Rasmussen, Magnhild and Tallaksen, Chantal M. E and Brodtkorb, Eylert and Fiskerstrand, Torunn and McFarland, Robert and Rahman, Shamima and Bindoff, Laurence A
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2017, Volume 40, Issue 6, pp. 861 - 866
Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic... 
Human Genetics | Biochemistry, general | Alpers | Pediatrics | Iron metabolism | Mitochondria | Medicine & Public Health | Anaemia | Metabolic Diseases | Internal Medicine | Haematopoietic dysfunction | POLG | GAMMA | MEDICINE, RESEARCH & EXPERIMENTAL | MUTATOR MICE | IRON | SIDEROBLASTIC ANEMIA | PATHOPHYSIOLOGY | BIOGENESIS | METABOLISM | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | LACTIC-ACIDOSIS | MUTATIONS | MITOCHONDRIAL-DNA POLYMERASE | Humans | DNA Polymerase gamma - genetics | Child, Preschool | Infant | Male | United Kingdom | Mutation - genetics | Diffuse Cerebral Sclerosis of Schilder - genetics | Anemia - genetics | Pilot Projects | Adolescent | Female | Retrospective Studies | Child | Anemia - etiology | Infant, Newborn | Care and treatment | Anemia | Patient outcomes | Analysis | Survival analysis | Prognosis | Medical prognosis | Hemoglobin | Homeostasis | Mutation
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7. Full Text Thorough evaluation of TIMIT database speaker identification performance under noise with and without the G.712 type handset
by Al-Kaltakchi, Musab T. S and Al-Nima, Raid Rafi Omar and Abdullah, Mohammed A. M and Abdullah, Hikmat N
International Journal of Speech Technology, ISSN 1381-2416, 9/2019, Volume 22, Issue 3, pp. 851 - 863
In this work, a speaker identification system is proposed which employs two feature extraction models, namely: the power normalized cepstral coefficients and... 
Engineering | G.712 type handset | Speaker identification | Signal,Image and Speech Processing | Stationary and non-stationary background noise | Artificial Intelligence | TIMIT-database | Social Sciences, general | Random noise | Databases | Acoustic noise | Noise | Comparative studies | Frequency (Acoustics) | Feature extraction | Probabilistic models | Signal to noise ratio | Automatic speaker recognition
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8. Full Text Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
by Hikmat, Omar and Hikmat, Omar and Tzoulis, Charalampos and Tzoulis, Charalampos and Klingenberg, Claus and Klingenberg, Claus and Rasmussen, Magnhild and Rasmussen, Magnhild and Tallaksen, Chantal M. E and Tallaksen, Chantal M. E and Brodtkorb, Eylert and Brodtkorb, Eylert and Fiskerstrand, Torunn and Fiskerstrand, Torunn and McFarland, Robert and McFarland, Robert and Rahman, Shamima and Rahman, Shamima and Bindoff, Laurence A and Bindoff, Laurence A
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 153 - 153
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0092-9 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Care and treatment | Neurosciences | Genetic disorders | Anemia | Patient outcomes
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9. Full Text The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia
by Srigley, J.R and Delahunt, B and Eble, J.N and Egevad, L and Epstein, J.I and Grignon, D and Hes, O and Moch, H and Montironi, R and Tickoo, S.K and Zhou, M and Argani, P and Hulsbergen-van de Kaa, C.A and et al and ISUP Renal Tumor Panel
American Journal of Surgical Pathology, ISSN 0147-5185, 2013, Volume 37, Issue 10, pp. 1469 - 1489
The classification working group of the International Society of Urological Pathology consensus conference on renal neoplasia was in charge of making... 
Diagnosis | Renal neoplasia | International Society of Urological Pathology | Renal cell carcinoma | Morphology | Classification | SURGERY | COLLECTING DUCT CARCINOMA | morphology | SPINDLE-CELL CARCINOMA | EPITHELIAL STROMAL TUMOR | ACQUIRED CYSTIC-DISEASE | CALCIUM-OXALATE DEPOSITION | renal neoplasia | SOFT PART SARCOMA | ALPHA-TFEB FUSION | diagnosis | APART FISH ASSAY | PATHOLOGY | classification | renal cell carcinoma | CLEAR-CELL | COMPARATIVE GENOMIC HYBRIDIZATION | Humans | Societies, Medical | Kidney Neoplasms - classification
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10. Full Text The International Society of Urological Pathology (ISUP) grading system for renal cell carcinoma and other prognostic parameters
by Delahunt, B and Cheville, J.C and Martignoni, G and Humphrey, P.A and Magi-Galluzzi, C and McKenney, J and Egevad, L and Algaba, F and Moch, H and Grignon, D.J and Montironi, R and Srigley, J.R and Hulsbergen-van de Kaa, C.A and et al and ISUP Renal Tumor Panel and Members of the ISUP Renal Tumor Panel
American Journal of Surgical Pathology, ISSN 0147-5185, 2013, Volume 37, Issue 10, pp. 1490 - 1504
The International Society of Urological Pathology 2012 Consensus Conference made recommendations regarding classification, prognostic factors, staging, and... 
Pathology | Tumor morphotype | Sarcomatoid differentiation | Renal cell carcinoma | Rhabdoid differentiation | Grade | International Society of Urological Pathology | Microvascular invasion | Kidney | Necrosis | SURGERY | COAGULATIVE TUMOR NECROSIS | pathology | microvascular invasion | EXTERNAL VALIDATION | MICROSCOPIC VENOUS INVASION | RHABDOID FEATURES | RADICAL NEPHRECTOMY | kidney | sarcomatoid differentiation | renal cell carcinoma | CLEAR-CELL | necrosis | OUTCOME PREDICTION | CANCER SPECIFIC SURVIVAL | grade | HISTOLOGIC SUBTYPES | tumor morphotype | rhabdoid differentiation | Carcinoma, Renal Cell - mortality | Prognosis | Societies, Medical | Carcinoma, Renal Cell - pathology | Humans | Kidney Neoplasms - classification | Neoplasm Grading - standards | Carcinoma, Renal Cell - classification | Kidney Neoplasms - pathology | Kidney Neoplasms - mortality | Urologi och njurmedicin | Klinisk medicin | Medicin och hälsovetenskap | Cancer och onkologi
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11. Full Text Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
by Maas, R.R and Iwanicka-Pronicka, Katarzyna and Ucar, S.K and Alhaddad, Bader and AlSayed, Moeenaldeen and Al-Owain, Mohammed A and Wevers, R.A and Brouwer, A.P. de and Wortmann, S.B and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
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12. Full Text Elevated cerebrospinal fluid protein inPOLG-related epilepsy: Diagnostic and prognostic implications
by Hikmat, Omar and Naess, Karin and Engvall, Martin and Klingenberg, Claus and Rasmussen, Magnhild and Tallaksen, Chantal M. E and Brodtkorb, Eylert and Fiskerstrand, Torunn and Isohanni, Pirjo and Uusimaa, Johanna and Darin, Niklas and Rahman, Shamima and Bindoff, Laurence A
Epilepsia, ISSN 0013-9580, 08/2018, Volume 59, Issue 8, pp. 1595 - 1602
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13. Full Text Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9)
by Hikmat, Omar and Tzoulis, Charalampos and Klingenberg, Claus and Rasmussen, Magnhild and Tallaksen, Chantal M. E and Brodtkorb, Eylert and Fiskerstrand, Torunn and McFarland, Robert and Rahman, Shamima and Bindoff, Laurence A
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 01/2018, Volume 41, Issue 1, p. 153
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14. Full Text ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic?
by Hikmat, O and Tzoulis, C and Knappskog, P. M and Johansson, S and Boman, H and Sztromwasser, P and Lien, E and Brodtkorb, E and Ghezzi, D and Bindoff, L. A
European Journal of Neurology, ISSN 1351-5101, 07/2016, Volume 23, Issue 7, pp. 1188 - 1194
Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3... 
coenzyme Q10 | ataxia | mitochondria | ADCK3 | CABC1 | epilepsia partialis continua | POLG | stroke‐like episodes | stroke-like episodes | MUSCLE | COQ DEFICIENCY | NEPHROPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | SYNTHASE | GENE | CEREBELLAR-ATAXIA | NEPHROTIC SYNDROME | UBIQUINONE DEFICIENCY | Mitochondrial Diseases - genetics | Diagnosis, Differential | Muscle Weakness - diagnosis | Humans | Ubiquinone - deficiency | Male | Mitochondrial Encephalomyopathies - diagnosis | Mitochondrial Proteins - genetics | Ubiquinone - genetics | Ataxia - diagnosis | Muscle Weakness - genetics | Epilepsy - diagnosis | Young Adult | Phenotype | Cerebellar Ataxia - genetics | Adult | Epilepsy - genetics | Female | Mutation | Ataxia - genetics | Cerebellar Ataxia - diagnosis | Mitochondrial Diseases - diagnosis | Stroke (Disease) | Enzymes | Epilepsy | Muscles | Ataxia | Genetic aspects | Mitochondrial DNA | Electroencephalography | Mental illness | Stroke | epilepsiapartialis continua
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15. Full Text The impact of a one month palliative care rotation on medical residents working in a tertiary cancer center in Jordan
by Shamieh, Omar M and Alawneh, Alia and Ahamd, Wafa and Salmany, Sewar S and Altamimi, Barakat and Alkam, Hamzah and Dibs, Khaled Nabil and Mallah, Osama and Ammar, Khawla and Turfa, Rim and Abdel-Razeq, Hikmat and Hui, David
Journal of Clinical Oncology, ISSN 0732-183X, 10/2015, Volume 33, Issue 29_suppl, pp. 168 - 168
168 Background: Palliative care education and training remains inadequate for medical professionals especially in developing countries. We evaluated the impact... 
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16. Full Text Renal tumors: diagnostic and prognostic biomarkers
by Tan, P.H and Cheng, L and Rioux-Leclercq, N and Merino, M.J and Netto, G and Reuter, V.E and Shen, S.S and Grignon, D.J and Montironi, R and Egevad, L and Srigley, J.R and Delahunt, B and Moch, H and Hulsbergen-van de Kaa, C.A and et al and ISUP Renal Tumor Panel
American Journal of Surgical Pathology, ISSN 0147-5185, 2013, Volume 37, Issue 10, pp. 1518 - 1531
The International Society of Urological Pathology convened a consensus conference on renal cancer, preceded by an online survey, to address issues relating to... 
Immunohistochemistry | Translocation carcinoma | Renal cell carcinoma | Pax 8 | International Society of Urological Pathology | Pax 2 | CK7 | SURGERY | CARBONIC-ANHYDRASE-IX | HIPPEL-LINDAU GENE | DIFFERENTIAL-DIAGNOSIS | SPINDLE-CELL CARCINOMA |