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Syndrome

Twin anemia polycythemia sequence from a prenatal perspective

Rheology / Belgium / Pregnancy / Humans / Female / Clinical Sciences / Newborn Infant / Prevalence / Polycythemia / Adult / Prenatal Diagnosis / Syndrome / Oligohydramnios / Middle Cerebral Artery / Clinical Sciences / Newborn Infant / Prevalence / Polycythemia / Adult / Prenatal Diagnosis / Syndrome / Oligohydramnios / Middle Cerebral Artery
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NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

Genetics / Transcription / Humans / Mutation / Mice / Retinitis pigmentosa / Animals / Expression / Differential Diagnosis / Transcription Factor / Clinical Sciences / Genotype / Orphan Nuclear Receptors / Syndrome / Nuclear hormone receptor / Retinitis pigmentosa / Animals / Expression / Differential Diagnosis / Transcription Factor / Clinical Sciences / Genotype / Orphan Nuclear Receptors / Syndrome / Nuclear hormone receptor
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A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia: Clinical and biochemical studies

Cognitive Science / Neurology / Humans / Male / Cerebellar ataxia / Clinical Sciences / Syndrome / Neurosciences / Clinical Sciences / Syndrome / Neurosciences
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Palmoplantar keratoderma with sclerodactyly (Huriez syndrome)

Humans / Male / Clinical Sciences / Middle Aged / Fingers / Syndrome
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Angiotensin II type 1 receptor blockade corrects cutaneous nitric oxide deficit in postural tachycardia syndrome

Physiology / Research Design / Treatment Outcome / Enzyme Inhibitors / Adolescent / Humans / Nitric oxide / Female / Heart rate / American / Skin / Medical Physiology / Posture / Clinical Sciences / Microdialysis / Adult / Nitric Oxide Synthase / Time Factors / Leg / Losartan / Vasodilation / Blood Flow Velocity / Syndrome / Neurosciences / *Hot Temperature / Laser Doppler Flowmetry / Tachycardia / Vascular Resistance / Humans / Nitric oxide / Female / Heart rate / American / Skin / Medical Physiology / Posture / Clinical Sciences / Microdialysis / Adult / Nitric Oxide Synthase / Time Factors / Leg / Losartan / Vasodilation / Blood Flow Velocity / Syndrome / Neurosciences / *Hot Temperature / Laser Doppler Flowmetry / Tachycardia / Vascular Resistance
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Urrets-Zavalia syndrome as a complication of argon laser peripheral iridoplasty

British / Visual acuity / Humans / Standard Deviation / Female / Male / Intraocular Pressure / Clinical Sciences / Middle Aged / Optometry and Ophthalmology / Adult / Public health systems and services research / Vision Disorders / Retrospective Studies / Laser Therapy / Mydriasis / Syndrome / Male / Intraocular Pressure / Clinical Sciences / Middle Aged / Optometry and Ophthalmology / Adult / Public health systems and services research / Vision Disorders / Retrospective Studies / Laser Therapy / Mydriasis / Syndrome
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Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

Magnetic Resonance Imaging / Epilepsy / Electroencephalography / Magnetic Resonance Spectroscopy / Energy Metabolism / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography
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Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

Humans / Female / Male / Infant / Pedigree / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Genetics / Epilepsy / Adolescent / Intellectual Disability / Mental Retardation / Cerebrospinal Fluid / Brain / Humans / Child / Blood Glucose / Mutation / Female / Male / Young Adult / Infant / Phenotype / Glucose Transport / Spectrum / Adult / Clinical Data / Retrospective Studies / Syndrome / Translation initiation / Age of Onset / Data Type / Movement Disorder / Ketogenic diet / Cerebrospinal Fluid / Brain / Humans / Child / Blood Glucose / Mutation / Female / Male / Young Adult / Infant / Phenotype / Glucose Transport / Spectrum / Adult / Clinical Data / Retrospective Studies / Syndrome / Translation initiation / Age of Onset / Data Type / Movement Disorder / Ketogenic diet
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Acampomelic campomelic dysplasia

Humans / Female / Pediatric radiology / Differential Diagnosis / Newborn Infant / Dwarfism / Leg / Syndrome / Craniofacial Dysostosis / Dwarfism / Leg / Syndrome / Craniofacial Dysostosis
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Caudal deficiency sequence in 7q terminal deletion

Genetics / Spine / Humans / Spinal Cord / Male / Clinical Sciences / Newborn Infant / Syndrome / Clinical Sciences / Newborn Infant / Syndrome
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Nager syndrome (preaxial acrofacial dysostosis): a case report

Dentistry / Cleft Palate / Case Report / Humans / Male / Synostosis / Radius / Ulna / Zygoma / Syndrome / Synostosis / Radius / Ulna / Zygoma / Syndrome
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Síndrome del seno silente: abordaje endoscópico y reconstrucción orbitaria en un solo tiempo

Humans / Female / Clinical Sciences / Middle Aged / Maxillary Sinus / Syndrome / Enophthalmos / Orbit / Ophthalmoscopy / Syndrome / Enophthalmos / Orbit / Ophthalmoscopy
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Percutaneous endoscopic gastrostomy: A long-term follow-up

Nutrition / Adolescent / Humans / Female / Male / Follow-up studies / Aged / Middle Aged / Adult / Time Factors / Survival Rate / Cancer Patient / Enteral Feeding / Gastrostomy / Abscess / Syndrome / Gastroscopy / Enteral Nutrition / Follow-up studies / Aged / Middle Aged / Adult / Time Factors / Survival Rate / Cancer Patient / Enteral Feeding / Gastrostomy / Abscess / Syndrome / Gastroscopy / Enteral Nutrition
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Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Genetics / Magnetic Resonance Imaging / Electroencephalography / Hippocampus / Temporal Lobe / Brain / Humans / Mutation / Female / Male / Temporal Lobe Epilepsy / Infant / American / Phenotype / Clinical Sciences / Medial Temporal Lobe / Syndrome / Brain / Humans / Mutation / Female / Male / Temporal Lobe Epilepsy / Infant / American / Phenotype / Clinical Sciences / Medial Temporal Lobe / Syndrome
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[Plasma cholinesterase activity in hepatic diseases]

Liver diseases / Humans / Female / Male / Cholinesterases / Bilirubin / Aged / Middle Aged / Longitudinal Studies / Adult / Biological markers / Syndrome / Case Control Studies / Bilirubin / Aged / Middle Aged / Longitudinal Studies / Adult / Biological markers / Syndrome / Case Control Studies
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