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Syndrome
Syndrome
Você conhece esta síndrome?
Adolescent / Biopsy / Macular Degeneration / Insulin Resistance / Humans / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Hypertriglyceridemia / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Hypertriglyceridemia
Superior semicircular canal dehiscence syndrome
Zoology / Neurosurgery / Treatment Outcome / Evoked Potentials / Prospective studies / Case Report / Humans / Female / Otology / Male / Vertigo / Clinical Sciences / Otology Neurotology / Aged / Middle Aged / Adult / Vision Disorders / Temporal Bone / Bone Conduction / Syndrome / Neurosciences / Vestibular Diseases / Valsalva Maneuver / Case Report / Humans / Female / Otology / Male / Vertigo / Clinical Sciences / Otology Neurotology / Aged / Middle Aged / Adult / Vision Disorders / Temporal Bone / Bone Conduction / Syndrome / Neurosciences / Vestibular Diseases / Valsalva Maneuver
Elejalde syndrome—A case report
Genetics / Case Report / Humans / Kidney / Liver / Pancreas / Female / American / Skin / Clinical Sciences / Newborn Infant / Syndrome / Pancreas / Female / American / Skin / Clinical Sciences / Newborn Infant / Syndrome
Neuropsychological and psychiatric complications in endoscopic third ventriculostomy: a clinical case report
Neurology / Personality Disorders / Magnetic Resonance Imaging / Executive Function / Endoscopy / Case Report / Humans / Personality Disorder / Male / Adult / Binge eating / Mr Imaging / Minimally Invasive / Endoscopic Third Ventriculostomy / Syndrome / Frontal Lobe / Brain Diseases / Case Report / Humans / Personality Disorder / Male / Adult / Binge eating / Mr Imaging / Minimally Invasive / Endoscopic Third Ventriculostomy / Syndrome / Frontal Lobe / Brain Diseases
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome
Superior semicircular canal dehiscence syndrome
Zoology / Neurosurgery / Treatment Outcome / Evoked Potentials / Prospective studies / Case Report / Humans / Female / Otology / Male / Vertigo / Clinical Sciences / Otology Neurotology / Aged / Middle Aged / Adult / Vision Disorders / Temporal Bone / Bone Conduction / Syndrome / Neurosciences / Vestibular Diseases / Valsalva Maneuver / Case Report / Humans / Female / Otology / Male / Vertigo / Clinical Sciences / Otology Neurotology / Aged / Middle Aged / Adult / Vision Disorders / Temporal Bone / Bone Conduction / Syndrome / Neurosciences / Vestibular Diseases / Valsalva Maneuver
Você conhece esta síndrome?
Adolescent / Biopsy / Macular Degeneration / Insulin Resistance / Humans / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
Mitochondria / Autophagy / Apoptosis / Western blotting / Humans / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation
Oral–facial–digital syndromes: Review and diagnostic guidelines
Genetics / Medical Genetics / Face / Humans / Mice / Animals / American / Phenotype / Clinical Sciences / Syndrome / Animals / American / Phenotype / Clinical Sciences / Syndrome
Chronic renal failure and XY gonadal dysgenesis: “Frasier” syndrome—a commentary on reported cases
Genetics / Humans / Female / American / Clinical Sciences / Chronic Renal Failure / Adult / Chronic Kidney Failure / Syndrome / Medical / Chronic Renal Failure / Adult / Chronic Kidney Failure / Syndrome / Medical
Posterior reversible encephalopathy syndrome as a complication of acute lupus activity
Cognitive Science / Hematology / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Biopsy / Brain / Humans / Child / Kidney / Neuroscience Nursing / INTENSIVE CARE / Case Study / Female / Male / Young Adult / Thrombocytopenia / Cyclosporine / Risk factors / Child Neurology / Recurrence / Clinical Sciences / Aged / Middle Aged / Adult / Lupus Nephritis / Peritoneal Dialysis / Retrospective Studies / Risk Factors / Astrocytoma / X ray Computed Tomography / Cerebral Hemorrhage / Syndrome / Neurosciences / Neurocritical Care / Brain Edema / Glomerulonephritis / Renal Dialysis / Neurologist / Cohort Studies / Medical Case Reports / Adolescent / Biopsy / Brain / Humans / Child / Kidney / Neuroscience Nursing / INTENSIVE CARE / Case Study / Female / Male / Young Adult / Thrombocytopenia / Cyclosporine / Risk factors / Child Neurology / Recurrence / Clinical Sciences / Aged / Middle Aged / Adult / Lupus Nephritis / Peritoneal Dialysis / Retrospective Studies / Risk Factors / Astrocytoma / X ray Computed Tomography / Cerebral Hemorrhage / Syndrome / Neurosciences / Neurocritical Care / Brain Edema / Glomerulonephritis / Renal Dialysis / Neurologist / Cohort Studies / Medical Case Reports
Herlyn-Werner-Wunderlich syndrome (uterus didelphys, blind hemivagina and ipsilateral renal agenesis) - a case report
Magnetic Resonance Imaging / Adolescent / Case Report / Humans / Child / Kidney / Ultrasonography / Female / Pediatric radiology / Vagina / Uterus / Syndrome / Kidney / Ultrasonography / Female / Pediatric radiology / Vagina / Uterus / Syndrome
Herlyn-Werner-Wunderlich syndrome (uterus didelphys, blind hemivagina and ipsilateral renal agenesis) - a case report
Magnetic Resonance Imaging / Adolescent / Case Report / Humans / Child / Kidney / Ultrasonography / Female / Pediatric radiology / Vagina / Uterus / Syndrome / Kidney / Ultrasonography / Female / Pediatric radiology / Vagina / Uterus / Syndrome
Intra-ureteric capsaicin in loin pain haematuria syndrome: efficacy and complications
Pain / Kidney transplantation / Treatment Outcome / Prospective studies / Pregnancy / Humans / Female / Male / Hematuria / Capsaicin / Clinical Sciences / Adult / Time Factors / Pilot Projects / Syndrome / Humans / Female / Male / Hematuria / Capsaicin / Clinical Sciences / Adult / Time Factors / Pilot Projects / Syndrome
Aromatic-L-amino-acid decarboxylase, a pyridoxal phosphate-dependent enzyme, is a beta-cell autoantigen
Adolescent / Multidisciplinary / Serotonin / Dopamine / Humans / Female / Animals / Alternative splicing / Enzyme / Rats / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Type 2 Diabetes Mellitus / Clinical Presentation / Recombinant Proteins / Syndrome / Gonads / Full Length Movies / Glutamate decarboxylase / islets of Langerhans / Autoantigens / Female / Animals / Alternative splicing / Enzyme / Rats / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Type 2 Diabetes Mellitus / Clinical Presentation / Recombinant Proteins / Syndrome / Gonads / Full Length Movies / Glutamate decarboxylase / islets of Langerhans / Autoantigens
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
Rape / Magnetic Resonance Imaging / Face / Brain development / Mental Retardation / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome
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